ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) (rs140861713)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000416238 SCV000884630 benign not provided 2017-08-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000179621 SCV000615523 benign not specified 2017-07-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416238 SCV000493375 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179621 SCV000231895 benign not specified 2015-02-18 criteria provided, single submitter clinical testing
GeneDx RCV000179621 SCV000514836 likely benign not specified 2017-10-17 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 RCV000347257 SCV000461321 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393135 SCV000461322 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000538017 SCV000648999 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-01-02 criteria provided, single submitter clinical testing

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