ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.434C>T (p.Ala145Val) (rs140833277)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079821 SCV000771961 likely benign Rigidity and multifocal seizure syndrome, lethal neonatal 2020-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000650124 SCV001143175 likely benign not provided 2019-05-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000650124 SCV001155004 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000650124 SCV001801018 likely benign not provided 2020-06-18 no assertion criteria provided clinical testing

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