ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120285 SCV003800488 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2022-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003120285 SCV004304311 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-06-12 criteria provided, single submitter clinical testing

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