ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.4287+15C>T

gnomAD frequency: 0.01137  dbSNP: rs116361180
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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 RCV000037374 SCV000061031 benign not specified 2012-04-24 criteria provided, single submitter clinical testing 4266+15C>T in Intron 31 of LAMA4: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 3.7% (138/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS/; rs116361180).
GeneDx RCV000037374 SCV000170037 benign not specified 2014-03-25 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000610133 SCV000743162 benign Dilated cardiomyopathy 1JJ 2014-10-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000610133 SCV001159917 benign Dilated cardiomyopathy 1JJ 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV000610133 SCV002405796 benign Dilated cardiomyopathy 1JJ 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000610133 SCV002800049 benign Dilated cardiomyopathy 1JJ 2021-10-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037374 SCV004038038 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000610133 SCV000734429 benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037374 SCV001922656 benign not specified no assertion criteria provided clinical testing

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