ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)

gnomAD frequency: 0.00001  dbSNP: rs767435985
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673666 SCV000798894 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-03-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849042 SCV002104951 uncertain significance Hereditary spastic paraplegia 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060828 SCV002433249 likely benign Spastic paraplegia 2023-12-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000673666 SCV003820631 uncertain significance Charlevoix-Saguenay spastic ataxia 2022-06-10 criteria provided, single submitter clinical testing

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