ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13039A>G (p.Ile4347Val)

gnomAD frequency: 0.00005  dbSNP: rs200939906
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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 RCV000516513 SCV000614935 uncertain significance not specified 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001412104 SCV001614180 likely benign Spastic paraplegia 2024-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001783015 SCV002026555 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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