ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.702dup (p.Gly235fs)

dbSNP: rs1682617973
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261554 SCV001438818 likely pathogenic Methylmalonic aciduria and homocystinuria type cblD criteria provided, single submitter clinical testing

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