ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.84T>C (p.Tyr28=) (rs1801193)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041413 SCV000065108 benign not specified 2008-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041413 SCV000110521 benign not specified 2017-08-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000041413 SCV000152723 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000041413 SCV000171619 benign not specified 2012-09-25 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.
PreventionGenetics,PreventionGenetics RCV000041413 SCV000303691 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326284 SCV000455470 benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383249 SCV000455471 benign Delta-sarcoglycanopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283555 SCV000455472 benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576364 SCV000677481 benign Limb-girdle muscular dystrophy, type 2F 2017-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620390 SCV000739762 benign Cardiovascular phenotype 2015-10-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713243 SCV000843831 benign not provided 2017-04-13 criteria provided, single submitter clinical testing

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