ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) (rs147069572)

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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 RCV000154741 SCV000204421 benign not specified 2015-07-01 criteria provided, single submitter clinical testing p.Thr338Thr in exon 9 of LAMA4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.5% (39/8648) of Ea st Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa; dbSNP rs147069572).
GeneDx RCV000154741 SCV000250522 benign not specified 2014-10-03 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 RCV000857936 SCV000653999 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618474 SCV000735675 likely benign Cardiovascular phenotype 2015-10-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000535258 SCV000734453 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing

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