ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) (rs11839380)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173862 SCV000225026 benign not specified 2014-09-24 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224353 SCV000281566 benign not provided 2015-05-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173862 SCV000312163 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000224353 SCV000562823 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000224353 SCV000802130 benign not provided 2017-08-22 no assertion criteria provided clinical testing

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