ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8005-3C>T (rs117084693)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506477 SCV000605327 uncertain significance not specified 2016-10-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298941 SCV000461389 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356140 SCV000461390 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing

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