ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.147G>A (p.Val49=) (rs45591834)

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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 RCV000620196 SCV000735358 likely benign Cardiovascular phenotype 2015-12-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770136 SCV000901562 benign Cardiomyopathy 2015-10-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038733 SCV000335110 likely benign not specified 2015-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000038733 SCV000170107 benign not specified 2014-03-14 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.
Invitae RCV000460383 SCV000557553 benign Myofibrillar myopathy, ZASP-related 2018-01-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038733 SCV000062411 benign not specified 2012-04-19 criteria provided, single submitter clinical testing Val49Val in Exon 02 of LDB3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence and has been identified in 0.4% (27/7020) of Europe an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs45591834).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845347 SCV000987395 likely benign not provided criteria provided, single submitter clinical testing
PreventionGenetics RCV000038733 SCV000306360 likely benign not specified criteria provided, single submitter clinical testing

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