ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9551G>A (p.Arg3184His)

gnomAD frequency: 0.00006  dbSNP: rs200453385
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 RCV000689777 SCV000817443 likely benign Spastic paraplegia 2023-11-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849054 SCV002105116 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829908 SCV002086193 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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