ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.696+3_696+6del

dbSNP: rs397509364
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000805 SCV000020955 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2008-04-03 no assertion criteria provided literature only

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