ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2169T>A (p.Leu723=)

dbSNP: rs150300694
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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 RCV001082853 SCV000652253 benign Neonatal-onset encephalopathy with rigidity and seizures 2025-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000553702 SCV001143172 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000553702 SCV001790525 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000553702 SCV004032721 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing BRAT1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004538060 SCV004711273 benign BRAT1-related disorder 2019-06-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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