ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) (rs45559835)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000041403 SCV000051596 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041403 SCV000065098 benign not specified 2009-01-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041403 SCV000110520 benign not specified 2012-07-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041403 SCV000303683 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357029 SCV000455479 likely benign Delta-sarcoglycanopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395779 SCV000455480 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313172 SCV000455481 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473682 SCV000562856 benign Limb-girdle muscular dystrophy, type 2F 2017-08-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000473682 SCV000677480 benign Limb-girdle muscular dystrophy, type 2F 2017-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621073 SCV000739771 benign Cardiovascular phenotype 2012-09-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000041403 SCV000152721 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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