ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2505T>C (p.Asp835=)

gnomAD frequency: 0.00001  dbSNP: rs761043298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863736 SCV001004446 likely benign Cystic fibrosis 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000863736 SCV002742361 likely benign Cystic fibrosis 2016-02-24 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. RCV000863736 SCV001455991 uncertain significance Cystic fibrosis 2018-12-19 no assertion criteria provided clinical testing

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