ClinVar Miner

Submissions for variant NM_014476.6(PDLIM3):c.379G>A (p.Val127Met)

gnomAD frequency: 0.02959  dbSNP: rs11944325
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181008 SCV000170986 benign not specified 2014-08-05 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 RCV000181008 SCV000269632 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Val127Met in exon 4 of PDLIM3: This variant is not expected to have clinical s ignificance because it has been identified in 9.9% (437/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs11944325).
Invitae RCV001082000 SCV000555695 benign Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621333 SCV000739774 benign Cardiovascular phenotype 2012-11-05 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 RCV000181008 SCV003928403 likely benign not specified 2023-04-17 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (PDLIM3) RCV000024531 SCV000045835 not provided not provided 2012-04-20 no assertion provided curation
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000181008 SCV001930788 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000181008 SCV001971743 benign not specified no assertion criteria provided clinical testing

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