ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del)

dbSNP: rs771746381
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672019 SCV000797074 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-01-12 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252206 SCV002523511 uncertain significance See cases 2020-02-10 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PM4
Athena Diagnostics RCV002473103 SCV002770985 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing

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