ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1931_1932delinsAG (p.Arg644Gln)

dbSNP: rs71531463
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518493 SCV000612490 benign not specified 2017-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000549738 SCV000652247 benign Neonatal-onset encephalopathy with rigidity and seizures 2025-02-04 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000518493 SCV005087812 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 35% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 33. Only high quality variants are reported.

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