ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)

dbSNP: rs397509361
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000203371 SCV004193232 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2023-08-01 criteria provided, single submitter clinical testing
OMIM RCV000000800 SCV000020950 pathogenic Vitamin B12-responsive methylmalonic acidemia, type cblDv2 2008-04-03 no assertion criteria provided literature only
GeneReviews RCV000203371 SCV000258516 not provided Methylmalonic aciduria and homocystinuria type cblD no assertion provided literature only

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