ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.166G>A (p.Val56Met) (rs148548421)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529680 SCV000652237 benign Rigidity and multifocal seizure syndrome, lethal neonatal 2020-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001536297 SCV001753035 likely benign not provided 2020-12-12 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251684 SCV001427424 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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