ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.954A>G (p.Glu318=)

gnomAD frequency: 0.00001  dbSNP: rs1471303851
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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 RCV001474742 SCV001678918 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501637 SCV002807781 likely benign Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-12-22 criteria provided, single submitter clinical testing

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