ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.696C>T (p.Ala232=)

gnomAD frequency: 0.00001  dbSNP: rs767496391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000937918 SCV001083712 likely benign Cobalamin C disease 2023-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275222 SCV001460146 likely benign Methylmalonic acidemia with homocystinuria cblC 2020-09-16 no assertion criteria provided clinical testing

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