ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=)

gnomAD frequency: 0.00066  dbSNP: rs200643137
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655312 SCV000777242 benign 46,XY sex reversal 9 2022-06-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432714 SCV004158338 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ZFPM2: BP4, BP7

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