ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1146T>A (p.Pro382=)

gnomAD frequency: 0.00002  dbSNP: rs763005854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001468825 SCV001672889 likely benign Neonatal-onset encephalopathy with rigidity and seizures 2023-11-02 criteria provided, single submitter clinical testing
GeneDx RCV001557119 SCV001778822 likely benign not provided 2018-07-25 criteria provided, single submitter clinical testing

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