ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20970del (p.Asp6991fs)

dbSNP: rs1554247806
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV000664234 SCV000787800 pathogenic Autosomal recessive ataxia, Beauce type 2018-04-25 no assertion criteria provided clinical testing

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