ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.687G>C (p.Trp229Cys)

dbSNP: rs1585684790
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reproductive Development, Murdoch Childrens Research Institute RCV001007692 SCV001146889 pathogenic 46,XY sex reversal 3 2019-08-26 no assertion criteria provided research

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