ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7354T>C (p.Leu2452=) (rs761258047)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868843 SCV001010219 likely benign Spastic paraplegia 2020-11-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278823 SCV001465865 likely benign Charlevoix-Saguenay spastic ataxia 2020-09-23 no assertion criteria provided clinical testing

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