ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.297C>T (p.Phe99=)

gnomAD frequency: 0.00002  dbSNP: rs749697783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314204 SCV000738490 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-08-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002232754 SCV001624916 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2023-12-31 criteria provided, single submitter clinical testing

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