ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4188C>T (p.His1396=) (rs61754477)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000324275 SCV000336092 benign not specified 2015-10-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265524 SCV000383354 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461336 SCV000562831 benign Spastic paraplegia 2020-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000324275 SCV001476817 benign not specified 2019-11-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676366 SCV000802142 benign not provided 2017-06-13 no assertion criteria provided clinical testing
Natera, Inc. RCV000265524 SCV001453553 benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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