ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.921C>G (p.Gly307=)

gnomAD frequency: 0.00002  dbSNP: rs147875876
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002240473 SCV001220840 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2024-05-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001056398 SCV001462112 uncertain significance Classic homocystinuria 2020-09-16 no assertion criteria provided clinical testing

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