ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp) (rs61729932)

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Total submissions: 5
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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
Invitae RCV001083768 SCV000652259 benign Rigidity and multifocal seizure syndrome, lethal neonatal 2020-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514442 SCV000841047 benign not provided 2018-07-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514442 SCV001154997 likely benign not provided 2021-02-01 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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