ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3744del (p.Lys1250fs) (rs121908784)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007653 SCV000071481 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000076 SCV000883588 pathogenic not specified 2019-02-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755920 SCV000888090 pathogenic not provided 2015-08-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004505 SCV001163550 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Myriad Women's Health, Inc. RCV000007653 SCV001194220 pathogenic Cystic fibrosis 2019-11-20 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.3744delA(K1250Rfs*9, aka 3876delA) is classified as pathogenic in the context of cystic fibrosis and is associated with the classic form of this disease. Sources cited for classification include the following: PMID 23974870. Classification of NM_000492.3(CFTR):c.3744delA(K1250Rfs*9, aka 3876delA) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.
Johns Hopkins Genomics,Johns Hopkins University RCV000007653 SCV001371795 pathogenic Cystic fibrosis 2020-01-07 criteria provided, single submitter clinical testing Disease-causing CFTR variant (previously reported for this patient by mass spectrometry genotyping). See www.CFTR2.org for phenotype information.
OMIM RCV000007653 SCV000027854 pathogenic Cystic fibrosis 2000-03-01 no assertion criteria provided literature only

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