ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr)

gnomAD frequency: 0.00003  dbSNP: rs767281295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578934 SCV001806296 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570818 SCV002960423 likely benign Spastic paraplegia 2023-03-26 criteria provided, single submitter clinical testing

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