ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) (rs145833100)

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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 RCV000419891 SCV000511823 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001082384 SCV000652249 likely benign Rigidity and multifocal seizure syndrome, lethal neonatal 2020-12-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000419891 SCV001154998 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001082384 SCV001367092 likely benign Rigidity and multifocal seizure syndrome, lethal neonatal 2018-09-26 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BS2,BP4.
Athena Diagnostics Inc RCV000419891 SCV001476179 likely benign not provided 2020-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000419891 SCV001786370 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251689 SCV001427429 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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