ClinVar Miner

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

dbSNP: rs11839380
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Total submissions: 10
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001084232 SCV000562823 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics 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
Breakthrough Genomics, Breakthrough Genomics RCV000224353 SCV005230847 benign not provided criteria provided, single submitter not provided
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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