ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2209C>T (p.Arg737Trp)

gnomAD frequency: 0.02491  dbSNP: rs60152725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516734 SCV000612491 benign not specified 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000530631 SCV000652257 benign Neonatal-onset encephalopathy with rigidity and seizures 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001683549 SCV001901822 benign not provided 2018-07-15 criteria provided, single submitter clinical testing

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