ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser) (rs147745609)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082421 SCV000652232 likely benign Rigidity and multifocal seizure syndrome, lethal neonatal 2020-11-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710742 SCV000841040 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251685 SCV001427425 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
GeneDx RCV000710742 SCV001805412 likely benign not provided 2021-05-28 no assertion criteria provided clinical testing

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