ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp)

gnomAD frequency: 0.08600  dbSNP: rs2920048
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252167 SCV000311827 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000252167 SCV000540695 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Labcorp Genetics (formerly Invitae), Labcorp RCV001515297 SCV001723337 benign 46,XY sex reversal 9 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001668525 SCV001891221 benign not provided 2019-04-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000252167 SCV004122348 likely benign not specified 2023-10-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668525 SCV005267901 benign not provided criteria provided, single submitter not provided

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