ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1905G>A (p.Leu635=)

gnomAD frequency: 0.00004  dbSNP: rs771581634
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
Invitae RCV000898794 SCV001043021 likely benign Spastic paraplegia 2023-11-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847108 SCV002105003 uncertain significance Hereditary spastic paraplegia 2021-02-23 criteria provided, single submitter clinical testing

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