ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala) (rs773536890)

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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 RCV000295037 SCV000615568 uncertain significance not specified 2017-01-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726569 SCV000345586 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383652 SCV000461147 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272900 SCV000461148 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing

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