ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg)

gnomAD frequency: 0.00001 dbSNP: rs864309739

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneReviews	RCV000203365	SCV000258510	not provided	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency		no assertion provided	literature only	mut(-) enzymatic subtype when homozygous

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