ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4749A>G (p.Pro1583=)

gnomAD frequency: 0.00001  dbSNP: rs760512075
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 RCV001404982 SCV001606892 likely benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847262 SCV002105045 uncertain significance Hereditary spastic paraplegia 2019-03-01 criteria provided, single submitter clinical testing

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