ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu)

gnomAD frequency: 0.00526  dbSNP: rs146423225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227236 SCV000289861 benign 46,XY sex reversal 9 2025-01-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820747 SCV002071446 benign not specified 2018-08-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001820747 SCV005204757 likely benign not specified 2024-06-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712181 SCV005267903 benign not provided criteria provided, single submitter not provided

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