ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) (rs35042032)

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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,Partners HealthCare Personalized Medicine RCV000037371 SCV000061028 benign not specified 2012-04-24 criteria provided, single submitter clinical testing Tyr1384Tyr in Exon 31 of LAMA4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 6% (224/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; rs35042032).
GeneDx RCV000037371 SCV000170036 benign not specified 2014-03-13 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 RCV000203919 SCV000262095 benign Dilated cardiomyopathy 1JJ 2018-01-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000203919 SCV000743163 benign Dilated cardiomyopathy 1JJ 2014-10-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769193 SCV000900569 benign Cardiomyopathy 2015-12-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000203919 SCV000734430 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing

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