ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.313del (p.Ile105fs) (rs121908801)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046792 SCV000245889 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759763 SCV000889308 pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004425 SCV001163469 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Counsyl RCV000046792 SCV001132356 likely pathogenic Cystic fibrosis 2015-10-15 no assertion criteria provided clinical testing

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