ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.729C>T (p.Arg243=) (rs770100854)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000966673 SCV001114018 likely benign not provided 2018-04-17 criteria provided, single submitter clinical testing
Invitae RCV001485121 SCV001689549 likely benign Rigidity and multifocal seizure syndrome, lethal neonatal 2020-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000966673 SCV001790024 likely benign not provided 2020-07-13 no assertion criteria provided clinical testing

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