ClinVar Miner

Submissions for variant NM_006509.4(RELB):c.1563C>T (p.Ala521=)

gnomAD frequency: 0.00161  dbSNP: rs199742203
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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 RCV001730267 SCV002401452 benign not provided 2025-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001730267 SCV004139716 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing RELB: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001730267 SCV001978321 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730267 SCV001980059 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003910984 SCV004725722 likely benign RELB-related disorder 2019-06-11 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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