ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5561G>A (p.Arg1854His)

gnomAD frequency: 0.00002  dbSNP: rs759125296
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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 RCV003761385 SCV001725994 benign FG syndrome 2023-01-30 criteria provided, single submitter clinical testing

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