ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1290C>T (p.Thr430=)

dbSNP: rs746564702
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 RCV002241176 SCV001709571 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2020-06-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001504685 SCV002083769 likely benign Classic homocystinuria 2020-12-27 no assertion criteria provided clinical testing

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