ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4197T>A (p.Ser1399=)

gnomAD frequency: 0.00001  dbSNP: rs1389363000
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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 RCV003595611 SCV001689147 likely benign FG syndrome 2018-02-28 criteria provided, single submitter clinical testing

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