ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.*2A>C (rs200757725)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036263 SCV000059915 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing *2A>C in exon 9 of SGCD: This variant is not expected to have clinical significa nce because it has been identified in 0.8% (24/3134) of African American chromos omes from a broad population by the NHLBI Exome Sequencing Project (http://evs.g s.washington.edu/EVS). *2A>C in exon 9 of SGCD (allele frequency = 0.8%, 24/313 4) **
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036263 SCV000110519 benign not specified 2013-05-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770209 SCV000901639 likely benign Cardiomyopathy 2017-07-12 criteria provided, single submitter clinical testing

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