ClinVar Miner

Submissions for variant NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile)

gnomAD frequency: 0.01871  dbSNP: rs62347360
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181009 SCV000170990 benign not specified 2014-07-09 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000181009 SCV000269636 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Thr245Ile in exon 6 of PDLIM3: This variant is not expected to have clinical s ignificance because it has been identified in 2.1% (181/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs62347360).
Invitae RCV000232736 SCV000289986 benign Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620242 SCV000739779 benign Cardiovascular phenotype 2013-01-17 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000181009 SCV004029101 likely benign not specified 2023-07-29 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (PDLIM3) RCV000024532 SCV000045836 not provided not provided 2012-04-20 no assertion provided curation
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000024532 SCV001928561 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000181009 SCV001957358 benign not specified no assertion criteria provided clinical testing

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