ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) (rs2252748)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118467 SCV000315144 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345658 SCV000460903 benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381473 SCV000460904 benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118467 SCV000706725 benign not specified 2017-03-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118467 SCV000152873 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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