ClinVar Miner

Submissions for variant NM_199292.3(TH):c.777G>A (p.Glu259=) (rs11564716)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000339212 SCV000745019 likely benign Segawa syndrome, autosomal recessive 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000339212 SCV000733019 likely benign Segawa syndrome, autosomal recessive no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000362807 SCV000342333 benign not specified 2016-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000362807 SCV000724033 likely benign not specified 2017-12-29 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 RCV000339212 SCV000369919 uncertain significance Segawa syndrome, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232698 SCV000291898 benign Dystonia 2018-01-08 criteria provided, single submitter clinical testing

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