ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) (rs121909013)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007562 SCV000245884 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224595 SCV000281129 pathogenic not provided 2015-05-26 criteria provided, single submitter clinical testing
Counsyl RCV000007562 SCV000485648 likely pathogenic Cystic fibrosis 2016-01-20 criteria provided, single submitter clinical testing
OMIM RCV000007562 SCV000027763 pathogenic Cystic fibrosis 1991-12-05 no assertion criteria provided literature only
PharmGKB RCV000211256 SCV000268177 drug response ivacaftor response - Efficacy 2018-03-23 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.

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