ClinVar Miner

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

gnomAD frequency: 0.01345  dbSNP: rs147118520
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Total submissions: 7
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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 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000611290 SCV001159576 benign Dilated cardiomyopathy 1JJ 2023-08-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000611290 SCV000734461 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000150907 SCV001922966 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000150907 SCV001975592 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003917472 SCV004731818 benign LAMA4-related disorder 2019-05-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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