ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser)

gnomAD frequency: 0.01717  dbSNP: rs35349917
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000037356 SCV000051555 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037356 SCV000061013 benign not specified 2012-02-09 criteria provided, single submitter clinical testing Benign based on high population frequency
GeneDx RCV000037356 SCV000170047 benign not specified 2014-01-15 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.
Invitae RCV000472707 SCV000556719 benign Dilated cardiomyopathy 1JJ 2024-01-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769211 SCV000900587 benign Cardiomyopathy 2016-04-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000472707 SCV001471590 benign Dilated cardiomyopathy 1JJ 2023-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037356 SCV003929153 likely benign not specified 2023-04-17 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037356 SCV001919936 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037356 SCV001932047 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037356 SCV001959220 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037356 SCV001974861 benign not specified no assertion criteria provided clinical testing

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