ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.92G>T (p.Arg31Leu)

gnomAD frequency: 0.02047  dbSNP: rs116259120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000117482 SCV000344759 benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Invitae RCV000961962 SCV001109021 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000961962 SCV001856719 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117482 SCV000151700 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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