ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) (rs149393972)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000332488 SCV000615534 benign not specified 2016-11-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000332488 SCV000339487 benign not specified 2016-02-12 criteria provided, single submitter clinical testing
GeneDx RCV000332488 SCV000533270 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 RCV000321674 SCV000461275 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376058 SCV000461276 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing

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