ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.675C>T (p.Phe225=)

gnomAD frequency: 0.00438  dbSNP: rs139443843
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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 RCV000502985 SCV000593654 benign not specified 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV000528384 SCV000652274 benign Neonatal-onset encephalopathy with rigidity and seizures 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001546321 SCV001765817 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506220 SCV002810700 likely benign Neonatal-onset encephalopathy with rigidity and seizures; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 2021-09-02 criteria provided, single submitter clinical testing

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