Submissions for variant NM_002206.3(ITGA7):c.810G>A (p.Gly270=)

gnomAD frequency: 0.05834  dbSNP: rs3847675

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079990	SCV000111881	benign	not specified	2012-11-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079990	SCV000308764	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000079990	SCV000519445	benign	not specified	2016-01-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001521748	SCV001731147	benign	Congenital muscular dystrophy due to integrin alpha-7 deficiency	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004707913	SCV005232529	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000079990	SCV000151478	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.