ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4145A>G (p.His1382Arg)

dbSNP: rs550057119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876720 SCV001019329 likely benign Spastic paraplegia 2024-08-19 criteria provided, single submitter clinical testing
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV001830926 SCV005061960 likely pathogenic Charlevoix-Saguenay spastic ataxia 2022-01-01 criteria provided, single submitter research
Natera, Inc. RCV001830926 SCV002086276 likely benign Charlevoix-Saguenay spastic ataxia 2021-01-06 no assertion criteria provided clinical testing

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