ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.1932C>T (p.Ser644=)

gnomAD frequency: 0.48282  dbSNP: rs12349966
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001657746 SCV001873262 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000608963 SCV001981283 benign Occipital pachygyria and polymicrogyria 2021-08-19 criteria provided, single submitter clinical testing
Invitae RCV001657746 SCV002402733 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117461 SCV000151679 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608963 SCV000734658 benign Occipital pachygyria and polymicrogyria no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000117461 SCV001963636 benign not specified no assertion criteria provided clinical testing

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