ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.237dup (p.Ser80fs)

dbSNP: rs770311689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847528 SCV002105014 pathogenic Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470942 SCV004210006 pathogenic Charlevoix-Saguenay spastic ataxia 2023-03-30 criteria provided, single submitter clinical testing

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