ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2484T>C (p.Asp828=)

gnomAD frequency: 0.00003  dbSNP: rs781733323
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003771566 SCV001725281 benign FG syndrome 2023-09-13 criteria provided, single submitter clinical testing

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