ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser)

gnomAD frequency: 0.00001  dbSNP: rs1444442163
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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 RCV003596569 SCV000935964 benign FG syndrome 2022-12-06 criteria provided, single submitter clinical testing

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