ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val)

gnomAD frequency: 0.00009  dbSNP: rs376235097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002067598 SCV002437511 benign 46,XY sex reversal 9 2023-01-03 criteria provided, single submitter clinical testing
Reproductive Development, Murdoch Childrens Research Institute RCV001007701 SCV001146898 benign 46,XY sex reversal 3 2019-08-26 no assertion criteria provided research

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