ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1251G>A (p.Leu417=)

gnomAD frequency: 0.00002  dbSNP: rs764079534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235928 SCV001015872 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409098 SCV002670060 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-08-22 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.
CeGaT Center for Human Genetics Tuebingen RCV003432838 SCV004153728 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CBS: BP4, BP7

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