ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) (rs17325713)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234475 SCV000289952 benign Spastic paraplegia 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624974 SCV000744370 benign Charlevoix-Saguenay spastic ataxia 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000250154 SCV001476022 benign not specified 2019-11-01 criteria provided, single submitter clinical testing
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

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