ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1701C>T (p.Thr567=)

gnomAD frequency: 0.00016  dbSNP: rs199766692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000650122 SCV001787437 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060768 SCV002339327 benign Neonatal-onset encephalopathy with rigidity and seizures 2022-10-08 criteria provided, single submitter clinical testing

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