ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) (rs566004273)

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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 RCV000713673 SCV000844300 benign not provided 2018-07-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000322552 SCV000339905 benign not specified 2016-02-25 criteria provided, single submitter clinical testing
GeneDx RCV000713673 SCV000980489 benign not provided 2018-05-07 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 RCV000354726 SCV000461479 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260229 SCV000461480 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing

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