ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1047G>A (p.Ala349=)

gnomAD frequency: 0.00001  dbSNP: rs200520623
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730906 SCV000858673 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165970 SCV003855887 likely benign Cystic fibrosis 2022-11-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330927 SCV004039114 likely benign not specified 2023-08-12 criteria provided, single submitter clinical testing

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