ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1210+20C>G (rs762674)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078938 SCV000110799 benign not specified 2016-03-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078938 SCV000304456 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442604 SCV000510838 benign not provided 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV001510333 SCV001717348 benign Metachromatic leukodystrophy 2020-12-05 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001510333 SCV001738514 benign Metachromatic leukodystrophy 2021-06-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000442604 SCV000801464 benign not provided 2015-10-22 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078938 SCV001741407 benign not specified no assertion criteria provided clinical testing

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