ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7275A>G (p.Arg2425=)

gnomAD frequency: 0.00002  dbSNP: rs761313165
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 RCV001411225 SCV001613284 likely benign Spastic paraplegia 2023-12-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847265 SCV002105079 uncertain significance Hereditary spastic paraplegia 2020-10-01 criteria provided, single submitter clinical testing

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