ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.40+12C>G

gnomAD frequency: 0.00711  dbSNP: rs149902904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002200043 SCV002355885 benign 46,XY sex reversal 9 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494097 SCV002797286 likely benign Diaphragmatic hernia 3; Tetralogy of Fallot; 46,XY sex reversal 9 2022-04-26 criteria provided, single submitter clinical testing

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