ClinVar Miner

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

dbSNP: rs11839380
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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, part of Exact Sciences RCV000173862 SCV000312163 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001084232 SCV000562823 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000173862 SCV001475445 benign not specified 2019-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000224353 SCV001948169 benign not provided 2019-03-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847804 SCV002105109 benign Hereditary spastic paraplegia 2021-09-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000224353 SCV000802130 benign not provided 2017-08-22 no assertion criteria provided clinical testing
Natera, Inc. RCV001274927 SCV001459487 benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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