ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1464A>G (p.Lys488=)

gnomAD frequency: 0.00003  dbSNP: rs771312041
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235951 SCV001676993 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2022-03-09 criteria provided, single submitter clinical testing

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