ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1164G>A (p.Ala388=)

gnomAD frequency: 0.00011  dbSNP: rs201141165
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000935042 SCV001080780 likely benign Neonatal-onset encephalopathy with rigidity and seizures 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001547262 SCV001766925 likely benign not provided 2021-04-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001547262 SCV004158792 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing BRAT1: BP4, BP7

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