ClinVar Miner

Submissions for variant NM_199292.3(TH):c.360G>A (p.Arg120=) (rs76240471)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000311361 SCV000745020 likely benign Segawa syndrome, autosomal recessive 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000311361 SCV000733020 likely benign Segawa syndrome, autosomal recessive no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000246453 SCV000338376 benign not specified 2015-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000829331 SCV000971047 benign not provided 2018-04-20 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000311361 SCV000745785 likely benign Segawa syndrome, autosomal recessive 2016-11-04 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311361 SCV000369927 likely benign Segawa syndrome, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459789 SCV000563355 benign Dystonia 2017-12-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000246453 SCV000317146 likely benign not specified criteria provided, single submitter clinical testing

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