ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1839G>A (p.Gln613=) (rs35840595)

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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 RCV000247615 SCV000312152 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361137 SCV000383373 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001084224 SCV000562820 benign Spastic paraplegia 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000247615 SCV001476018 benign not specified 2019-11-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676370 SCV000802146 benign not provided 2017-08-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000361137 SCV001453561 benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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