ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2250C>T (p.Ala750=)

gnomAD frequency: 0.00006  dbSNP: rs543555790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000942190 SCV001088110 benign Neonatal-onset encephalopathy with rigidity and seizures 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978121 SCV004787058 likely benign BRAT1-related condition 2019-04-01 criteria provided, single submitter 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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