Submissions for variant NM_000047.3(ARSL):c.23+5G>C

gnomAD frequency: 0.00068  dbSNP: rs200062390

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002235836	SCV001098629	benign	Chondrodysplasia punctata, brachytelephalangic, autosomal	2025-01-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279659	SCV002567015	uncertain significance	Connective tissue disorder	2020-03-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001573450	SCV005326863	uncertain significance	not provided	2024-02-01	criteria provided, single submitter	clinical testing	In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530118	SCV001744773	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573450	SCV001799356	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573450	SCV001972143	likely benign	not provided		no assertion criteria provided	clinical testing