ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.196-12T>C

gnomAD frequency: 0.01634  dbSNP: rs78871662
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Total submissions: 9
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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 RCV000037342 SCV000060999 benign not specified 2012-02-16 criteria provided, single submitter clinical testing 196-12T>C in intron 2 of LAMA4: This variant is not expected to have clinical si gnificance because it has been identified in 2% (143/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs78871662).
GeneDx RCV000037342 SCV000170045 benign not specified 2014-03-10 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 RCV000604102 SCV001159624 benign Dilated cardiomyopathy 1JJ 2023-11-28 criteria provided, single submitter clinical testing
Invitae RCV000604102 SCV002379460 benign Dilated cardiomyopathy 1JJ 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037342 SCV004029201 benign not specified 2023-07-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604102 SCV000734460 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037342 SCV001921008 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037342 SCV001932761 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037342 SCV001957847 benign not specified no assertion criteria provided clinical testing

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