ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly)

gnomAD frequency: 0.04474  dbSNP: rs28374544
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467901 SCV000557285 benign 46,XY sex reversal 9 2024-01-29 criteria provided, single submitter clinical testing
Mendelics RCV000467901 SCV001137696 benign 46,XY sex reversal 9 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230349 SCV003928353 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing
OMIM RCV000006501 SCV000026684 pathogenic Tetralogy of Fallot 2003-11-01 no assertion criteria provided literature only

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