ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) (rs144105769)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710233 SCV000615526 likely benign not provided 2018-03-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710233 SCV000337392 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000340947 SCV000533336 likely benign not specified 2016-11-11 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 RCV000284940 SCV000461589 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339824 SCV000461590 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000647701 SCV000769499 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-11-06 criteria provided, single submitter clinical testing

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