ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.402T>C (p.Ala134=) (rs190935424)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618190 SCV000739898 likely benign Cardiovascular phenotype 2013-02-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770206 SCV000901636 likely benign Cardiomyopathy 2017-03-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725606 SCV000338103 uncertain significance not provided 2016-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000183898 SCV000236381 benign not specified 2014-08-27 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.
Invitae RCV000466240 SCV000562852 likely benign Limb-girdle muscular dystrophy, type 2F 2016-06-28 criteria provided, single submitter clinical testing

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