ClinVar Miner

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

gnomAD frequency: 0.00068  dbSNP: rs200062390
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235836 SCV001098629 benign Chondrodysplasia punctata, brachytelephalangic, autosomal 2024-01-30 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
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

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