ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2422+16C>A

gnomAD frequency: 0.00001  dbSNP: rs774516868
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001670206 SCV001886650 benign not provided 2021-01-21 criteria provided, single submitter clinical testing
Invitae RCV003761414 SCV003496213 benign FG syndrome 2023-11-28 criteria provided, single submitter clinical testing

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