ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1862G>A (p.Arg621Gln)

gnomAD frequency: 0.00198  dbSNP: rs138077616
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080553 SCV000771969 benign Neonatal-onset encephalopathy with rigidity and seizures 2025-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV005000458 SCV001143169 benign not specified 2024-09-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000650132 SCV001154999 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing BRAT1: BP4, BS2
GeneDx RCV000650132 SCV001867782 benign not provided 2018-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533400 SCV004720835 likely benign BRAT1-related disorder 2019-11-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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