ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13269A>T (p.Ser4423=)

gnomAD frequency: 0.00001  dbSNP: rs1180908312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517276 SCV000614936 uncertain significance not specified 2016-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001430724 SCV001633469 likely benign Spastic paraplegia 2022-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001783016 SCV002026554 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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