ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2533C>T (p.Gln845Ter)

dbSNP: rs1555252876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664830 SCV000788848 likely pathogenic Charlevoix-Saguenay spastic ataxia 2017-01-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000664830 SCV005055562 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-11-18 criteria provided, single submitter clinical testing

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