ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1326C>G (p.Gly442=)

gnomAD frequency: 0.00003  dbSNP: rs750627927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235749 SCV001089968 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2023-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382160 SCV002692995 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-02-10 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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