ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.465C>T (p.Leu155=) (rs45516997)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617229 SCV000736247 likely benign Cardiovascular phenotype 2016-04-28 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 RCV000770142 SCV000901568 likely benign Cardiomyopathy 2016-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000150917 SCV000170109 benign not specified 2014-03-27 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 RCV000230615 SCV000289625 benign Myofibrillar myopathy, ZASP-related 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150917 SCV000198541 benign not specified 2014-12-23 criteria provided, single submitter clinical testing p.Leu155Leu in exon 4 of LDB3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.4% (255/64044) of E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs45516997).

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