Submissions for variant NM_198129.4(LAMA3):c.4530C>T (p.Pro1510=)

gnomAD frequency: 0.47260  dbSNP: rs12965685

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455593	SCV000539494	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	RCV001523269	SCV001732947	benign	not provided	2023-12-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001542940	SCV001761358	benign	Junctional epidermolysis bullosa, non-Herlitz type	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001542941	SCV001761359	benign	Junctional epidermolysis bullosa gravis of Herlitz	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001542942	SCV001761360	benign	Laryngo-onycho-cutaneous syndrome	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001523269	SCV001837376	benign	not provided	2019-03-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001523269	SCV005251349	benign	not provided		criteria provided, single submitter	not provided