ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10338G>A (p.Gln3446=)

gnomAD frequency: 0.98600  dbSNP: rs2737701
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118229 SCV000312143 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270430 SCV000383311 benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000270430 SCV000745004 benign Charlevoix-Saguenay spastic ataxia 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000118229 SCV001475434 benign not specified 2019-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509973 SCV001716894 benign Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000270430 SCV001750102 benign Charlevoix-Saguenay spastic ataxia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000676352 SCV001869867 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847717 SCV002104955 benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676352 SCV005230844 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118229 SCV000152588 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000270430 SCV000733201 benign Charlevoix-Saguenay spastic ataxia no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676352 SCV000802126 benign not provided 2016-02-19 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118229 SCV001957076 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000270430 SCV002086177 benign Charlevoix-Saguenay spastic ataxia 2019-11-16 no assertion criteria provided clinical testing

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