ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.825C>T (p.Ser275=)

gnomAD frequency: 0.00067  dbSNP: rs141320181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546362 SCV000652278 benign Neonatal-onset encephalopathy with rigidity and seizures 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001595016 SCV001829588 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing

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