ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) (rs140451075)

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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 RCV000224838 SCV000280713 likely benign not provided 2015-10-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001082931 SCV000652281 benign Rigidity and multifocal seizure syndrome, lethal neonatal 2020-11-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224838 SCV000780877 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000224838 SCV000841053 benign not provided 2019-06-12 criteria provided, single submitter clinical testing

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