ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser)

gnomAD frequency: 0.00001  dbSNP: rs781638379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557988 SCV001779848 likely benign not provided 2018-09-05 criteria provided, single submitter clinical testing
Invitae RCV003597200 SCV002404801 benign FG syndrome 2023-02-06 criteria provided, single submitter clinical testing

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