ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4415+20G>A

gnomAD frequency: 0.00001  dbSNP: rs369776103
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV003773921 SCV002452547 likely benign FG syndrome 2024-01-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005058094 SCV005725957 likely benign not specified 2024-11-01 criteria provided, single submitter clinical testing

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