Submissions for variant NM_198129.4(LAMA3):c.8731C>T (p.Leu2911=)

gnomAD frequency: 0.15145  dbSNP: rs1131521

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252202	SCV000303065	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000309977	SCV000408013	benign	Laryngo-onycho-cutaneous syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000362299	SCV000408014	benign	Junctional epidermolysis bullosa gravis of Herlitz	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000252202	SCV000539498	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV001518012	SCV001726637	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001542851	SCV001761238	benign	Junctional epidermolysis bullosa, non-Herlitz type	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000362299	SCV001761239	benign	Junctional epidermolysis bullosa gravis of Herlitz	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000309977	SCV001761240	benign	Laryngo-onycho-cutaneous syndrome	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001518012	SCV001939610	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001518012	SCV005254072	benign	not provided		criteria provided, single submitter	not provided