ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1707T>C (p.Tyr569=)

gnomAD frequency: 0.00001  dbSNP: rs397508278
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001410038 SCV001612079 likely benign Cystic fibrosis 2022-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001410038 SCV002710562 likely benign Cystic fibrosis 2021-01-24 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. RCV001827090 SCV002080657 likely benign CFTR-related disorders 2018-06-25 no assertion criteria provided clinical testing

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