ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)

gnomAD frequency: 0.02528  dbSNP: rs17325713
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234475 SCV000289952 benign Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000250154 SCV000312153 benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624974 SCV000743230 benign Charlevoix-Saguenay spastic ataxia 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000624974 SCV000744370 benign Charlevoix-Saguenay spastic ataxia 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000250154 SCV001476022 benign not specified 2019-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000676368 SCV001895977 benign not provided 2019-11-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23280630, 22287014, 19779133)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847973 SCV002105007 benign Hereditary spastic paraplegia 2021-10-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676368 SCV005230850 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676368 SCV000802144 likely benign not provided 2016-03-08 no assertion criteria provided clinical testing
Natera, Inc. RCV000624974 SCV001453560 benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000250154 SCV001952453 benign not specified no assertion criteria provided clinical testing

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