ClinVar Miner

Submissions for variant NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys)

dbSNP: rs28928892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015997 SCV000036264 pathogenic Brachydactyly type E1 2003-04-01 no assertion criteria provided literature only
OMIM RCV000015998 SCV000036265 pathogenic Brachydactyly type D 2003-04-01 no assertion criteria provided literature only

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