ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2001C>T (p.His667=)

dbSNP: rs772786141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953954 SCV001100555 likely benign Cystic fibrosis 2024-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000953954 SCV002718658 likely benign Cystic fibrosis 2015-03-18 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. RCV000953954 SCV001455984 uncertain significance Cystic fibrosis 2018-09-29 no assertion criteria provided clinical testing

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