ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)

gnomAD frequency: 0.00010  dbSNP: rs147517201
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 RCV000821085 SCV000961827 likely benign Spastic paraplegia 2023-11-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849125 SCV002105056 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276943 SCV001463610 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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