ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.733A>G (p.Ile245Val)

dbSNP: rs754464973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578679 SCV001805950 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001578679 SCV002777295 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-08-16 criteria provided, single submitter clinical testing

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