ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.315C>T (p.Tyr105=)

gnomAD frequency: 0.00006  dbSNP: rs528744719
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 RCV000948439 SCV001094647 likely benign Cobalamin C disease 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000948439 SCV002089532 likely benign Cobalamin C disease 2021-01-26 no assertion criteria provided clinical testing

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