ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg)

dbSNP: rs1192682879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658672 SCV000780456 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001692255 SCV001911522 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001692255 SCV002026533 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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