ClinVar Miner

Submissions for variant NM_001080116.1(LDB3):c.771G>A (p.Thr257=) (rs144445130)

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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 RCV000617888 SCV000735772 likely benign Cardiovascular phenotype 2017-02-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726618 SCV000701812 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000036853 SCV000170111 benign not specified 2014-04-21 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 RCV000462287 SCV000557542 benign Myofibrillar myopathy, ZASP-related 2018-01-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036853 SCV000060508 benign not specified 2015-04-04 criteria provided, single submitter clinical testing p.Thr257Thr in exon 9 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 0.3% (52/16506) of So uth Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs144445130).

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