"Revvity Omics, Revvity"[submitter] AND "LOC129930446"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 848845	NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	LOC129930446, MMACHC (R206Q +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GPathogenic/Likely pathogenic
Select item 558321	NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)	LOC129930446, MMACHC (R206P +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GConflicting classifications of pathogenicity