Submissions for variant NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp)

gnomAD frequency: 0.00248  dbSNP: rs61729932

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514442	SCV000610681	uncertain significance	not provided	2017-04-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083768	SCV000652259	benign	Neonatal-onset encephalopathy with rigidity and seizures	2025-02-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000514442	SCV000841047	benign	not provided	2018-07-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514442	SCV001154997	likely benign	not provided	2025-05-01	criteria provided, single submitter	clinical testing	BRAT1: BP4, BS2
GeneDx	RCV000514442	SCV001835877	benign	not provided	2018-10-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514442	SCV005875977	likely benign	not provided	2024-09-24	criteria provided, single submitter	clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251688	SCV001427428	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing