ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6186dup (p.Pro2063fs)

dbSNP: rs2137611917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001806923 SCV002051576 likely pathogenic not provided 2021-02-15 criteria provided, single submitter clinical testing PVS1, PM2
Baylor Genetics RCV003470924 SCV004209935 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-08-14 criteria provided, single submitter clinical testing
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV003470924 SCV005044627 pathogenic Charlevoix-Saguenay spastic ataxia 2022-01-01 criteria provided, single submitter research

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