ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1791G>A (p.Leu597=)

gnomAD frequency: 0.00006  dbSNP: rs759517314
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001417054 SCV001619249 likely benign Neonatal-onset encephalopathy with rigidity and seizures 2023-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432692 SCV004158788 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing BRAT1: BP4

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