ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)

gnomAD frequency: 0.00004  dbSNP: rs191995849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001481775 SCV001686125 likely benign Spastic paraplegia 2024-01-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508702 SCV001715026 uncertain significance not provided 2020-12-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001780391 SCV002026630 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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