ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1031C>A (p.Thr344Asn)

gnomAD frequency: 0.00002  dbSNP: rs773615925
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 RCV001562508 SCV001785284 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771720 SCV002360158 benign FG syndrome 2022-12-14 criteria provided, single submitter clinical testing

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