Submissions for variant NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg)

gnomAD frequency: 0.00645  dbSNP: rs201962705

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000295966	SCV000345775	likely benign	not specified	2016-09-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000435846	SCV000511218	likely benign	not provided	2016-11-15	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000295966	SCV000513445	benign	not specified	2017-01-17	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000295966	SCV000595534	benign	not specified	2017-06-20	criteria provided, single submitter	clinical testing
Invitae	RCV000435846	SCV001110391	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000435846	SCV003917716	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	LAMC3: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000435846	SCV001800037	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000295966	SCV001807540	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000435846	SCV001975607	likely benign	not provided		no assertion criteria provided	clinical testing