ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.785G>T (p.Ser262Ile)

dbSNP: rs1767683356
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283794 SCV001469180 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2020-05-06 no assertion criteria provided clinical testing

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