Submissions for variant NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser)

gnomAD frequency: 0.02614  dbSNP: rs2229466

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000270485	SCV000353619	benign	Junctional epidermolysis bullosa	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.
Invitae	RCV001522713	SCV001732306	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001537661	SCV001754590	benign	Amelogenesis imperfecta type 1A	2021-07-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001537662	SCV001754591	benign	Junctional epidermolysis bullosa gravis of Herlitz	2021-07-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001537663	SCV001754592	benign	Junctional epidermolysis bullosa, non-Herlitz type	2021-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001522713	SCV001988725	benign	not provided	2021-10-27	criteria provided, single submitter	clinical testing