ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2451C>T (p.Leu817=)

gnomAD frequency: 0.00001  dbSNP: rs756595744
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 RCV001410793 SCV001612844 likely benign Spastic paraplegia 2022-10-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277264 SCV001464178 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-05-02 no assertion criteria provided clinical testing

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