ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2136C>T (p.Pro712=)

gnomAD frequency: 0.00004  dbSNP: rs377207665
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003596082 SCV001621593 likely benign FG syndrome 2023-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437344 SCV004165343 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing MED12: BP4, BP7

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