ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.493C>T (p.Arg165Trp)

gnomAD frequency: 0.00009  dbSNP: rs45610637
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154432 SCV000204100 likely benign not specified 2014-04-09 criteria provided, single submitter clinical testing Arg165Trp in exon 4 of LDB3: This variant is not expected to have clinical signi ficance due to a lack of conservation across species, including mammals. Of note , at least 7 mammals have a tryptophan (Trp) at this position. Additionally, it has been identified in 1/8592 European American chromosomes by the NHLBI Exome S equencing Project (http://evs.gs.washington.edu/EVS/) and in 1/38 Asian chromoso mes from the Coriell Cell Repository (dbSNP rs45610637).
GeneDx RCV001719955 SCV000235978 likely benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621354 SCV000736730 likely benign Cardiovascular phenotype 2020-12-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000861221 SCV001001478 benign Myofibrillar myopathy 4 2024-11-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171121 SCV001333801 benign Cardiomyopathy 2019-02-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154432 SCV002548434 likely benign not specified 2022-05-02 criteria provided, single submitter clinical testing

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