ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.2196C>T (p.Ala732=)

gnomAD frequency: 0.00034  dbSNP: rs201963242
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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 RCV000893490 SCV001037426 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276743 SCV001463271 uncertain significance Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2020-03-11 no assertion criteria provided clinical testing

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