ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.213G>A (p.Arg71=) (rs74846539)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770205 SCV000901634 likely benign Cardiomyopathy 2017-08-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725174 SCV000334630 uncertain significance not provided 2015-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334932 SCV000455476 likely benign Delta-sarcoglycanopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403734 SCV000455477 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299902 SCV000455478 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205063 SCV000262239 likely benign Limb-girdle muscular dystrophy, type 2F 2017-11-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041402 SCV000065097 likely benign not specified 2015-05-18 criteria provided, single submitter clinical testing p.Arg71Arg in exon 4 of SGCD: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.15% (95/64128) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs74846539).
PreventionGenetics RCV000041402 SCV000303682 likely benign not specified criteria provided, single submitter clinical testing

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