ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2169T>A (p.Leu723=) (rs150300694)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082853 SCV000652253 benign Rigidity and multifocal seizure syndrome, lethal neonatal 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000553702 SCV001143172 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000553702 SCV001790525 likely benign not provided 2020-10-21 no assertion criteria provided clinical testing

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