ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.510G>A (p.Glu170=) (rs368838376)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619731 SCV000739879 likely benign Cardiovascular phenotype 2013-05-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770208 SCV000901638 likely benign Cardiomyopathy 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731143 SCV000858921 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing
GeneDx RCV000424458 SCV000514617 benign not specified 2017-01-10 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 RCV000392260 SCV000455494 likely benign Delta-sarcoglycanopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282447 SCV000455495 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349109 SCV000455496 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000639554 SCV000761130 likely benign Limb-girdle muscular dystrophy, type 2F 2017-11-14 criteria provided, single submitter clinical testing

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