ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp) (rs61753094)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000557901 SCV000612489 uncertain significance not provided 2019-12-02 criteria provided, single submitter clinical testing
Invitae RCV001079442 SCV000652242 likely benign Rigidity and multifocal seizure syndrome, lethal neonatal 2020-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764707 SCV000895841 uncertain significance Rigidity and multifocal seizure syndrome, lethal neonatal; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000557901 SCV001155000 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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