ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1040G>A (p.Arg347His) (rs77932196)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007602 SCV000071520 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
PharmGKB RCV000660858 SCV000783097 drug response ivacaftor response - Efficacy 2018-03-27 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.
Invitae RCV000007602 SCV000074220 pathogenic Cystic fibrosis 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 347 of the CFTR protein (p.Arg347His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs77932196, ExAC 0.001%). This variant is clearly defined as a Cystic Fibrosis (CF) causative allele (PMID: 23974870) and is included in the American College of Medical Genetics (ACMG) panel of CF variants (PMID: 15371902). ClinVar contains an entry for this variant (Variation ID: 7182). For these reasons, this variant has been classified as Pathogenic.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224726 SCV000281142 pathogenic not provided 2015-04-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508504 SCV000603045 pathogenic not specified 2017-02-03 criteria provided, single submitter clinical testing
Mendelics RCV000007602 SCV000886207 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
OMIM RCV000007602 SCV000027803 pathogenic Cystic fibrosis 2018-04-09 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000007602 SCV000052118 pathogenic Cystic fibrosis 2015-04-06 no assertion criteria provided clinical testing
Counsyl RCV000007602 SCV000485223 pathogenic Cystic fibrosis 2015-11-24 no assertion criteria provided clinical testing

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