ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del)

dbSNP: rs1561957516
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SingHealth Duke-NUS Institute of Precision Medicine RCV000722004 SCV000853169 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-06-07 no assertion criteria provided curation

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