ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)

dbSNP: rs1360298758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625786 SCV000746335 pathogenic Charlevoix-Saguenay spastic ataxia 2017-12-03 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Tarbiat Modares University RCV000625786 SCV001622584 pathogenic Charlevoix-Saguenay spastic ataxia 2021-05-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000625786 SCV002027627 pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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