ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg)

gnomAD frequency: 0.00005  dbSNP: rs199998045
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
Invitae RCV001224971 SCV001397202 likely benign Spastic paraplegia 2023-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836173 SCV002086259 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-06-25 no assertion criteria provided clinical testing

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