ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1311T>C (p.Gly437=)

dbSNP: rs1562895049
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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 RCV000780174 SCV000917223 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV001272209 SCV001673790 likely benign Cystic fibrosis 2023-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001272209 SCV004055981 likely benign Cystic fibrosis 2023-07-27 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.
Natera, Inc. RCV001272209 SCV001453960 uncertain significance Cystic fibrosis 2020-03-11 no assertion criteria provided clinical testing

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