ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.140del (p.Lys47fs)

dbSNP: rs2133292794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580014 SCV001809383 likely pathogenic not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001580014 SCV001963207 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001580014 SCV001973511 pathogenic not provided no assertion criteria provided clinical testing

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