ClinVar Miner

Submissions for variant NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) (rs117070973)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180768 SCV000233256 benign not specified 2015-02-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267132 SCV000387576 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442268 SCV000510689 likely benign not provided 2016-09-14 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Athena Diagnostics Inc RCV000180768 SCV000615718 likely benign not specified 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV000531400 SCV000648890 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2018-01-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000531400 SCV000744052 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2016-10-06 criteria provided, single submitter clinical testing

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