ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1086T>C (p.Tyr362=)

gnomAD frequency: 0.00003  dbSNP: rs397508155
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003656157 SCV001160660 likely benign not provided 2023-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001458655 SCV001662480 likely benign Cystic fibrosis 2024-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001458655 SCV002730848 likely benign Cystic fibrosis 2021-05-07 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005408638 SCV006071103 likely benign not specified 2025-03-17 criteria provided, single submitter clinical testing

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