ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11894_11895del (p.His3965fs)

dbSNP: rs2487562970
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003234867 SCV003932839 likely pathogenic Autosomal recessive ataxia, Beauce type criteria provided, single submitter clinical testing

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