Submissions for variant NM_002206.3(ITGA7):c.415-10C>T

gnomAD frequency: 0.06475  dbSNP: rs11171661

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079989	SCV000111880	benign	not specified	2012-09-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079989	SCV000308760	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000079989	SCV000519442	benign	not specified	2016-01-26	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.
Invitae	RCV001514414	SCV001722254	benign	Congenital muscular dystrophy due to integrin alpha-7 deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000079989	SCV001880138	benign	not specified	2021-03-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079989	SCV000151477	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.