ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr)

gnomAD frequency: 0.00073  dbSNP: rs139881948
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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 RCV002080760 SCV002380426 likely benign 46,XY sex reversal 9 2023-06-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507931 SCV002813765 likely benign Diaphragmatic hernia 3; Tetralogy of Fallot; 46,XY sex reversal 9 2021-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950984 SCV004759335 likely benign ZFPM2-related disorder 2019-11-12 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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