ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2055+19G>A

gnomAD frequency: 0.00020  dbSNP: rs373450304
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 RCV001613847 SCV001835526 benign not provided 2019-11-23 criteria provided, single submitter clinical testing
Invitae RCV003597206 SCV002330324 benign FG syndrome 2023-12-24 criteria provided, single submitter clinical testing

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