ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) (rs142559688)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150903 SCV000198497 likely benign not specified 2015-11-24 criteria provided, single submitter clinical testing p.Thr794Thr in exon 19 of LAMA4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.2% (23/10358) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs142559688).
Ambry Genetics RCV000248517 SCV000319703 likely benign Cardiovascular phenotype 2015-05-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000549573 SCV000654006 benign Dilated cardiomyopathy 1JJ 2017-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000150903 SCV000727136 likely benign not specified 2018-02-05 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000549573 SCV000734441 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing

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