ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6495C>A (p.Thr2165=)

dbSNP: rs2147845582
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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 RCV003762184 SCV002374491 likely benign FG syndrome 2021-08-12 criteria provided, single submitter clinical testing

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