ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3441A>G (p.Val1147=)

gnomAD frequency: 0.00001  dbSNP: rs375687401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002658 SCV001160644 likely benign not specified 2019-06-18 criteria provided, single submitter clinical testing
Invitae RCV001429741 SCV001632460 likely benign Cystic fibrosis 2023-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001429741 SCV002617122 likely benign Cystic fibrosis 2020-10-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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