ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.393T>C (p.Phe131=)

gnomAD frequency: 0.00004  dbSNP: rs1039221071
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735022 SCV000863209 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001467061 SCV001671078 likely benign Cystic fibrosis 2024-03-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001467061 SCV001821997 likely benign Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001467061 SCV002624348 likely benign Cystic fibrosis 2020-07-08 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. RCV001833601 SCV002080134 likely benign CFTR-related disorder 2018-05-17 no assertion criteria provided clinical testing

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