ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1135-5C>T

gnomAD frequency: 0.00029  dbSNP: rs374463976
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532640 SCV000652214 likely benign Neonatal-onset encephalopathy with rigidity and seizures 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530198 SCV003551134 uncertain significance Inborn genetic diseases 2021-05-20 criteria provided, single submitter clinical testing The c.1135-5C>T intronic alteration consists of a C to T substitution 5 nucleotides before exon 9 (coding exon 8) of the BRAT1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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