ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg)

gnomAD frequency: 0.00241  dbSNP: rs113289249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655315 SCV000777245 benign 46,XY sex reversal 9 2024-09-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816654 SCV002070315 benign not specified 2021-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907920 SCV004719177 likely benign ZFPM2-related disorder 2020-02-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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