ClinVar Miner

Submissions for variant NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp)

gnomAD frequency: 0.00014  dbSNP: rs140795978
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551331 SCV000639676 benign Intellectual disability 2024-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998478 SCV001154572 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000998478 SCV001765781 likely benign not provided 2020-12-31 criteria provided, single submitter clinical testing

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