ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.924-6C>G

gnomAD frequency: 0.00063  dbSNP: rs376179903
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535867 SCV000652283 likely benign Neonatal-onset encephalopathy with rigidity and seizures 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV001591266 SCV001825427 uncertain significance not provided 2021-08-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge In silico analysis supports a deleterious effect on splicing Observed in 0.0185% (36/195066 alleles) in large population cohorts (Lek et al., 2016)
Ambry Genetics RCV002530203 SCV003554174 likely benign Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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