ClinVar Miner

Submissions for variant NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro) (rs121908256)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007229 SCV000027425 pathogenic 46,XY sex reversal, type 5 2009-05-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000007229 SCV000091169 not provided 46,XY sex reversal, type 5 no assertion provided not provided

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