ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)

gnomAD frequency: 0.00001  dbSNP: rs567650774
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862365 SCV001002861 likely benign Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849160 SCV002105080 likely benign Hereditary spastic paraplegia 2021-12-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141874 SCV003820610 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-08-22 criteria provided, single submitter clinical testing

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