ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.561C>T (p.Val187=)

gnomAD frequency: 0.00001  dbSNP: rs758653462
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392388 SCV001594031 likely benign Spastic paraplegia 2023-08-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136066 SCV003820608 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-04-10 criteria provided, single submitter clinical testing

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