ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21523-8dup

dbSNP: rs761577958
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000280061 SCV000461005 uncertain significance Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000337330 SCV000461006 uncertain significance Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000518339 SCV000615610 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523553 SCV003273175 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-07-18 criteria provided, single submitter clinical testing

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