ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9912C>T (p.Leu3304=) (rs1593124372)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000979103 SCV001127041 likely benign not provided 2018-11-23 criteria provided, single submitter clinical testing
Invitae RCV001410507 SCV001612556 likely benign Spastic paraplegia 2020-09-13 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001578937 SCV001806299 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-07-22 criteria provided, single submitter clinical testing

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