ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.195+144T>C (rs147118520)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150907 SCV000198512 benign not specified 2011-11-10 criteria provided, single submitter clinical testing Leu113Leu in Exon 02 of LAMA4: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.4% (99/6950) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs147118520).
GeneDx RCV000150907 SCV000516556 benign not specified 2015-05-09 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 RCV000611290 SCV000734461 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing

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