Submissions for variant NM_006059.4(LAMC3):c.521C>A (p.Pro174His)

gnomAD frequency: 0.29468  dbSNP: rs2275137

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001668245	SCV001891450	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000613983	SCV001981275	benign	Occipital pachygyria and polymicrogyria	2021-08-19	criteria provided, single submitter	clinical testing
Invitae	RCV001668245	SCV002409566	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117477	SCV000151695	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	RCV000613983	SCV000734653	benign	Occipital pachygyria and polymicrogyria		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117477	SCV001967156	benign	not specified		no assertion criteria provided	clinical testing