ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.747C>T (p.Asp249=)

dbSNP: rs1601356424
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
Invitae RCV001449151 SCV001652257 likely benign Classic homocystinuria 2018-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001449151 SCV002083793 likely benign Classic homocystinuria 2020-03-27 no assertion criteria provided clinical testing

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