ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1884C>T (p.Ala628=)

gnomAD frequency: 0.00625  dbSNP: rs142346283
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501199 SCV000593653 benign not specified 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV001082750 SCV000652244 benign Neonatal-onset encephalopathy with rigidity and seizures 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000551251 SCV001143170 benign not provided 2019-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000551251 SCV001793620 likely benign not provided 2021-10-12 criteria provided, single submitter clinical testing

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