ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1656A>G (p.Leu552=)

gnomAD frequency: 0.08543  dbSNP: rs1536365
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118231 SCV000312149 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321187 SCV000383375 likely 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 RCV000321187 SCV000744371 benign Charlevoix-Saguenay spastic ataxia 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517661 SCV001726202 benign Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000321187 SCV001750107 benign Charlevoix-Saguenay spastic ataxia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000676371 SCV001872024 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847719 SCV002104997 benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676371 SCV005219361 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118231 SCV000152590 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 RCV000321187 SCV000733203 benign Charlevoix-Saguenay spastic ataxia no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676371 SCV000802147 benign not provided 2016-02-22 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118231 SCV001953200 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000321187 SCV002086733 benign Charlevoix-Saguenay spastic ataxia 2019-11-21 no assertion criteria provided clinical testing

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