ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.33G>A (p.Gly11=)

gnomAD frequency: 0.00025  dbSNP: rs567323664
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712661 SCV000724346 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002232731 SCV001004507 benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2024-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456372 SCV002617085 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-04-16 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. RCV000863793 SCV002083834 likely benign Classic homocystinuria 2019-12-12 no assertion criteria provided clinical testing

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