ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.151A>C (p.Arg51=)

gnomAD frequency: 0.00010  dbSNP: rs754759237
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842329 SCV000984338 likely benign not provided 2020-07-21 criteria provided, single submitter clinical testing
Invitae RCV002235141 SCV001616894 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2022-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029238 SCV005032117 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-09 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. RCV001414753 SCV002083832 likely benign Classic homocystinuria 2020-02-12 no assertion criteria provided clinical testing

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