ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5832A>G (p.Ala1944=)

gnomAD frequency: 0.00004  dbSNP: rs374169472
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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 RCV000805989 SCV000945967 likely benign Spastic paraplegia 2024-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289181 SCV001476830 likely benign not provided 2020-06-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001784428 SCV002026634 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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