ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)

gnomAD frequency: 0.00004  dbSNP: rs775506976
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 RCV001247263 SCV001420673 likely benign Spastic paraplegia 2023-11-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847210 SCV002105119 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830006 SCV002086189 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-04-24 no assertion criteria provided clinical testing

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