ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) (rs150942467)

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Total submissions: 4
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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 Rigidity and multifocal seizure syndrome, lethal neonatal 2020-12-04 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 Praxis fuer Humangenetik Tuebingen RCV000444010 SCV001155003 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing

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