ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5712G>A (p.Ala1904=)

gnomAD frequency: 0.00007  dbSNP: rs189962028
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 RCV000863999 SCV000732822 benign not provided 2021-06-30 criteria provided, single submitter clinical testing
Invitae RCV003762834 SCV002459881 benign FG syndrome 2023-10-23 criteria provided, single submitter clinical testing

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