ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.667-14C>G

dbSNP: rs1388184910
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
Genetics and Molecular Pathology, SA Pathology RCV002272703 SCV002556745 uncertain significance Classic homocystinuria 2020-08-24 criteria provided, single submitter clinical testing PM2, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003096132 SCV003447388 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2022-05-31 criteria provided, single submitter clinical testing

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