Submissions for variant NM_198129.4(LAMA3):c.9352-7G>A

gnomAD frequency: 0.51794  dbSNP: rs2241643

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247590	SCV000303067	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000290820	SCV000408027	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	RCV000348031	SCV000408028	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	RCV000247590	SCV000539499	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	RCV001523272	SCV001732950	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001542855	SCV001761244	benign	Junctional epidermolysis bullosa, non-Herlitz type	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000348031	SCV001761245	benign	Junctional epidermolysis bullosa gravis of Herlitz	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000290820	SCV001761246	benign	Laryngo-onycho-cutaneous syndrome	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001523272	SCV001883109	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001523272	SCV005254073	benign	not provided		criteria provided, single submitter	not provided