ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His)

dbSNP: rs756758310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336492 SCV000460989 uncertain significance Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398082 SCV000460990 uncertain significance Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing

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