ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1752A>G (p.Leu584=)

gnomAD frequency: 0.00001  dbSNP: rs368626712
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 RCV000871517 SCV001013188 likely benign Spastic paraplegia 2024-01-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847087 SCV002104999 uncertain significance Hereditary spastic paraplegia 2019-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277269 SCV001464183 likely benign Charlevoix-Saguenay spastic ataxia 2020-05-13 no assertion criteria provided clinical testing

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