ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3300A>G (p.Glu1100=)

gnomAD frequency: 0.00001  dbSNP: rs1487356590
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002144219 SCV002463357 likely benign Spastic paraplegia 2020-11-21 criteria provided, single submitter clinical testing

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