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Title | PolicyStat ID and Link | Owner | Google Draft Link |
|---|---|---|---|
Clinical WGS with Interpretation: Data Review and Workflow | Areesha | ||
Clinical Interpretation of the Actionable Screening Panel (ACMG78 gene list) SOP | Andrea | ||
Clinical Interpretation of the Nurture Genomics | Screening Panel for Childhood-Onset Conditions Panel (413 genes) SOP | Kat | ||
Variant Interpretation SOP | Andrea | ||
Gene Curation SOP | Andrea |
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Other helpful resources:
PVS1 paper - Tayoun et al. 2018 https://drive.google.com/open?id=18DLSzEt5iUDVNYqGZYpcZK6lrSP3Y6Uz&usp=drive_fs
CNVs
Nomenclature in Fabric (notes from 01.08.24). Both examples in CASE D-061109681-BH-4009-P-A
INTERGENIC variants: Chr#:g.####-####del
Example: chr17:g.29517928-31373373del in case D-061109681-BH-4009-P-A
The header will read “A pathogenic structural variant involving several genes was identified.”
INTRAGENIC variants: NM_###(GENE):c.###_###del
Example: NM_001165963018055.45( SCN1ANODAL):c.3430-816_4003-790del 193+ 290_194-799del in case E3710317398
The header will read “A likely pathogenic structural variant involving NODAL was identified.”
Editing parental origin, size, number of genes:
https://search.clinicalgenome.org/kb/gene-dosage?page=1&size=25&search=
https://cnvcalc.clinicalgenome.org/redmine/projects/cnvcalc/cnv_calculator/cnv-loss
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Fabric Report Formatting https://docs.google.com/document/d/1FIMve2clZ-Mc0U9GMhqGFZcRXU_DQajcGzRhy0aMB-U/edit?usp=drive_link
CNVs: https://docs.google.com/document/d/1X38c78W0u8hopMGud7ljOAv-dIpQonCCxXTxDH2DSH4/edit https://docs.google.com/spreadsheets/d/1TlQBG3ocJNIu7v9p6mPEv0ylzAT4AqvIytUvHYIlHx8/edit#gid=0 , requests to variant summary header https://docs.google.com/spreadsheets/d/1CJo4p341-bk4uKBrPJM41x4f7TbXGuZ4mblpuq10k1U/edit#gid=0
Overall results https://docs.google.com/spreadsheets/d/1axChG5B-QE5wjfO4uF9LzIP1S5lx5_U3lbMwlupoFhs/edit#gid=0
Clinician Contact Procedure: https://docs.google.com/document/d/1G8xNzZQLpnU02Cr1skVTQHyfQL59_C0hmVlOfe63rLY/edit