ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln)

gnomAD frequency: 0.00003  dbSNP: rs774457503
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665213 SCV000789290 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-01-17 criteria provided, single submitter clinical testing

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