ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)

gnomAD frequency: 0.00004  dbSNP: rs749327297
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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 RCV001448702 SCV001651801 likely benign Spastic paraplegia 2024-10-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507818 SCV001713618 uncertain significance not provided 2020-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001780384 SCV002026602 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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