ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1176A>G (p.Val392=)

dbSNP: rs542860881
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420938 SCV001623399 likely benign not specified 2021-05-02 criteria provided, single submitter clinical testing
Invitae RCV001440296 SCV001643202 likely benign Cystic fibrosis 2022-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001440296 SCV002637127 likely benign Cystic fibrosis 2022-05-12 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.
Natera, Inc. RCV001835994 SCV002080548 likely benign CFTR-related disorders 2020-10-22 no assertion criteria provided clinical testing

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