Submissions for variant NM_006059.4(LAMC3):c.219T>G (p.His73Gln)

gnomAD frequency: 0.56936  dbSNP: rs3739512

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000117462	SCV000224506	benign	not specified	2015-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001711205	SCV001939626	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000599882	SCV001981274	benign	Occipital pachygyria and polymicrogyria	2021-08-19	criteria provided, single submitter	clinical testing
Invitae	RCV001711205	SCV002436924	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117462	SCV000151680	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	RCV000599882	SCV000734651	benign	Occipital pachygyria and polymicrogyria		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117462	SCV001976303	benign	not specified		no assertion criteria provided	clinical testing