ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.5326+15A>C

gnomAD frequency: 0.24942  dbSNP: rs3734290
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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 RCV000037393 SCV000061050 benign not specified 2011-09-28 criteria provided, single submitter clinical testing This variant is classified as benign because it is located in the intron outside the splice consensus and occurs in the general population at a frequency of >1% (rs3734290).
GeneDx RCV000037393 SCV000170043 benign not specified 2014-01-08 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.
PreventionGenetics, part of Exact Sciences RCV000037393 SCV000308790 benign not specified criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000601243 SCV000744204 benign Dilated cardiomyopathy 1JJ 2015-09-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000601243 SCV001981255 benign Dilated cardiomyopathy 1JJ 2021-08-19 criteria provided, single submitter clinical testing
Invitae RCV000601243 SCV002394371 benign Dilated cardiomyopathy 1JJ 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037393 SCV003929145 benign not specified 2023-04-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601243 SCV000734425 benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037393 SCV001923630 benign not specified no assertion criteria provided clinical testing

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