ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.560C>G (p.Pro187Arg)

gnomAD frequency: 0.00002  dbSNP: rs551655837
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003246975 SCV003942898 likely benign Inborn genetic diseases 2023-04-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522040 SCV001731501 benign Neonatal-onset encephalopathy with rigidity and seizures 2025-01-30 criteria provided, single submitter clinical testing

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