ClinVar Miner

Submissions for variant NM_033071.3(SYNE1):c.22090C>T (p.Arg7364Cys) (rs371642308)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000385445 SCV000615620 uncertain significance not specified 2016-12-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725044 SCV000333494 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303479 SCV000460977 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360607 SCV000460978 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing

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