ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly)

gnomAD frequency: 0.00349  dbSNP: rs35605307
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Total submissions: 9
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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 RCV000037354 SCV000061011 likely benign not specified 2012-04-18 criteria provided, single submitter clinical testing Glu930Gly in exon 21 of LAMA4: This variant is not expected to have clinical sig nificance because it has been identified in 0.8% (30/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs35605307). Glu930Gly in exon 21 of LAMA4 (r s35605307; allele frequency = 0.8%, 30/3738) **
GeneDx RCV000037354 SCV000250505 benign not specified 2014-07-08 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.
Ambry Genetics RCV000246758 SCV000320404 benign Cardiovascular phenotype 2015-10-28 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV000472840 SCV000556699 benign Dilated cardiomyopathy 1JJ 2024-01-17 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000472840 SCV000744215 benign Dilated cardiomyopathy 1JJ 2017-05-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000853003 SCV000995758 benign Primary dilated cardiomyopathy 2017-08-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000472840 SCV001159722 likely benign Dilated cardiomyopathy 1JJ 2021-02-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037354 SCV004241082 likely benign not specified 2023-12-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037354 SCV001917757 benign not specified no assertion criteria provided clinical testing

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