ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.128-10A>G

gnomAD frequency: 0.46043  dbSNP: rs2164688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001511191 SCV001718390 benign Neonatal-onset encephalopathy with rigidity and seizures 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001692394 SCV001907997 benign not provided 2018-07-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528448 SCV001740216 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528448 SCV001958319 benign not specified no assertion criteria provided clinical testing

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