ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) (rs118204047)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000203332 SCV000258515 pathogenic Methylmalonic acidemia with homocystinuria cblD 2016-01-07 no assertion criteria provided literature only
OMIM RCV000000801 SCV000020951 pathogenic Methylmalonic aciduria, cblD type, variant 2 2008-04-03 no assertion criteria provided literature only

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