ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4950G>A (p.Thr1650=)

gnomAD frequency: 0.00007  dbSNP: rs756839501
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 RCV001704475 SCV000531036 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003595977 SCV001009544 benign FG syndrome 2024-12-15 criteria provided, single submitter clinical testing

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