ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13391A>G (p.Gln4464Arg)

dbSNP: rs2153973584
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733742 SCV001984599 uncertain significance Autosomal recessive ataxia, Beauce type 2021-01-24 criteria provided, single submitter clinical testing

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