ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5592A>G (p.Pro1864=)

gnomAD frequency: 0.00001  dbSNP: rs1392245437
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003761227 SCV001599866 likely benign FG syndrome 2019-04-08 criteria provided, single submitter clinical testing

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