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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655312 SCV000777242 benign 46,XY sex reversal 9 2024-08-13 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
Breakthrough Genomics, Breakthrough Genomics RCV003432714 SCV005267895 benign not provided criteria provided, single submitter not provided

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