ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2361G>A (p.Thr787=)

gnomAD frequency: 0.00004  dbSNP: rs757243199
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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 RCV000922002 SCV001067419 likely benign Neonatal-onset encephalopathy with rigidity and seizures 2023-12-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432918 SCV004158785 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing BRAT1: BP4, BP7

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