ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)

gnomAD frequency: 0.21747  dbSNP: rs17078605
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000118228 SCV000312142 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366246 SCV000383313 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001517094 SCV001725508 benign Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000366246 SCV001750103 benign Charlevoix-Saguenay spastic ataxia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000676354 SCV001858750 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847716 SCV002104952 benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118228 SCV000152587 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 RCV000676354 SCV000802128 benign not provided 2016-02-19 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118228 SCV001959688 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118228 SCV001970309 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000366246 SCV002086186 benign Charlevoix-Saguenay spastic ataxia 2019-11-19 no assertion criteria provided clinical testing

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