ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)

gnomAD frequency: 0.00675  dbSNP: rs150942467
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Total submissions: 6
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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 RCV000444010 SCV000511253 likely benign not provided 2016-09-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001082821 SCV000652284 benign Neonatal-onset encephalopathy with rigidity and seizures 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000444010 SCV001143178 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000444010 SCV001155003 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing BRAT1: BP4, BS2
GeneDx RCV000444010 SCV001836971 benign not provided 2020-09-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29375859)
Fulgent Genetics, Fulgent Genetics RCV002502461 SCV002808863 likely benign Neonatal-onset encephalopathy with rigidity and seizures; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 2022-04-01 criteria provided, single submitter clinical testing

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