ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3852A>G (p.Lys1284=)

gnomAD frequency: 0.00002  dbSNP: rs547248892
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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) RCV000729989 SCV000857695 uncertain significance not provided 2017-10-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193707 SCV001362743 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360853 SCV002623677 likely benign Cystic fibrosis 2022-08-28 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.

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