ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12304T>C (p.Leu4102=) (rs2737699)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118230 SCV000312146 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325147 SCV000383295 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001517093 SCV001725507 benign Spastic paraplegia 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000325147 SCV001750100 benign Charlevoix-Saguenay spastic ataxia 2021-07-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118230 SCV000152589 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000676348 SCV000802122 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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