ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1275T>C (p.Asp425=)

dbSNP: rs1562895009
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985674 SCV001134112 uncertain significance not provided 2019-08-23 criteria provided, single submitter clinical testing
Invitae RCV002067569 SCV002423867 likely benign Cystic fibrosis 2023-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002067569 SCV002686904 likely benign Cystic fibrosis 2022-04-19 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.

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