ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.273G>A (p.Thr91=) (rs45613039)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038753 SCV000062431 benign not specified 2015-04-28 criteria provided, single submitter clinical testing p.Thr91Thr in exon 3 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 2.0% (330/16496) of So uth Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs45613039).
GeneDx RCV000038753 SCV000523511 likely benign not specified 2016-09-02 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 RCV000466416 SCV000557545 benign Myofibrillar myopathy, ZASP-related 2017-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618355 SCV000736170 benign Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,In silico models in agreement (benign)
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845362 SCV000987416 likely benign not provided criteria provided, single submitter clinical testing

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