ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3637T>C (p.Leu1213=)

gnomAD frequency: 0.00043  dbSNP: rs577638741
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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 RCV001517041 SCV001725434 benign Spastic paraplegia 2024-01-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847292 SCV002105033 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724329 SCV001958349 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727865 SCV001975484 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001836434 SCV002086691 likely benign Charlevoix-Saguenay spastic ataxia 2020-02-16 no assertion criteria provided clinical testing

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