Submissions for variant NM_198129.4(LAMA3):c.4260G>C (p.Gly1420=)

gnomAD frequency: 0.48275  dbSNP: rs867449

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454971	SCV000539493	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	RCV001523268	SCV001732946	benign	not provided	2023-12-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001542937	SCV001761355	benign	Junctional epidermolysis bullosa, non-Herlitz type	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001542938	SCV001761356	benign	Junctional epidermolysis bullosa gravis of Herlitz	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001542939	SCV001761357	benign	Laryngo-onycho-cutaneous syndrome	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001523268	SCV001890600	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001523268	SCV005251344	benign	not provided		criteria provided, single submitter	not provided