ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter)

dbSNP: rs1408290451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673160 SCV000798332 likely pathogenic Charlevoix-Saguenay spastic ataxia 2018-03-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000673160 SCV005634288 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-06-11 criteria provided, single submitter clinical testing

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