ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.825C>T (p.Cys275=)

dbSNP: rs764638041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002234851 SCV000953557 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2024-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424913 SCV002681040 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-02-26 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323731 SCV004029481 likely benign not specified 2023-07-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000813211 SCV001462120 uncertain significance Classic homocystinuria 2020-09-16 no assertion criteria provided clinical testing

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