ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.3371C>T (p.Ser1124Phe)

gnomAD frequency: 0.00738  dbSNP: rs113259170
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000953276 SCV001099839 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000953276 SCV001939629 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490800 SCV002807066 benign Occipital pachygyria and polymicrogyria 2021-07-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000953276 SCV003917717 benign not provided 2023-11-01 criteria provided, single submitter clinical testing LAMC3: BP4, BS1, BS2
Genetic Services Laboratory, University of Chicago RCV000117468 SCV000151686 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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