Submissions for variant NM_005562.3(LAMC2):c.483C>T (p.Val161=)

gnomAD frequency: 0.25575  dbSNP: rs1129723

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250771	SCV000311108	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000274277	SCV000351658	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	RCV001521604	SCV001730973	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001537732	SCV001754680	benign	Junctional epidermolysis bullosa gravis of Herlitz	2021-07-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001537733	SCV001754681	benign	Junctional epidermolysis bullosa, non-Herlitz type	2021-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001521604	SCV001988726	benign	not provided	2021-10-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15370542)