ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1620A>G (p.Ala540=)

gnomAD frequency: 0.00003  dbSNP: rs762496445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000904193 SCV001048700 likely benign Neonatal-onset encephalopathy with rigidity and seizures 2023-08-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432892 SCV004158789 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing BRAT1: BP4, BP7

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