ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) (rs148493518)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756734 SCV000884628 benign not provided 2017-06-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180051 SCV000232410 benign not specified 2014-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000180051 SCV000519632 benign not specified 2016-08-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000287866 SCV000461257 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347367 SCV000461258 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000560776 SCV000649018 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-10-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000180051 SCV000315083 benign not specified criteria provided, single submitter clinical testing

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