ClinVar Miner

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

gnomAD frequency: 0.00248  dbSNP: rs61729932
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Total submissions: 7
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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

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