ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)

gnomAD frequency: 0.00013  dbSNP: rs186436335
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473308 SCV000552975 likely benign Spastic paraplegia 2024-01-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594324 SCV000702728 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765121 SCV000896343 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000594324 SCV001713619 uncertain significance not provided 2019-07-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848817 SCV002105093 uncertain significance Hereditary spastic paraplegia 2021-02-12 criteria provided, single submitter clinical testing

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