ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2413A>C (p.Thr805Pro)

gnomAD frequency: 0.00008  dbSNP: rs747413033
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 RCV001516763 SCV001725108 benign FG syndrome 1 2018-10-11 criteria provided, single submitter clinical testing

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