ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1653C>T (p.Cys551=) (rs45581435)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038740 SCV000062418 likely benign not specified 2011-12-20 criteria provided, single submitter clinical testing Cys551Cys in exon 12 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 7/7012 European Americ an and 1/3734 African American chromosomes by the NHBLI Exome sequencing project (http://evs.gs.washington.edu/EVS/; please note, this cohort contained individu als with heart disease). This variant is listed in dbSNP as not detected in seve ral populations (rs45581435). Cys551Cys in exon 12 of LDB3 (rs45581435, NHBLI Exome Seq Project; allele frequency = 7/7012)
Invitae RCV000463163 SCV000557536 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619334 SCV000735601 likely benign Cardiovascular phenotype 2016-10-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770297 SCV000901729 likely benign Cardiomyopathy 2016-06-13 criteria provided, single submitter clinical testing

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