Submissions for variant NM_002206.3(ITGA7):c.1410-3del

dbSNP: rs773251917

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173753	SCV000224901	benign	not specified	2015-03-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000173753	SCV000567858	likely benign	not specified	2018-03-09	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	RCV000551754	SCV000648296	likely benign	Congenital muscular dystrophy due to integrin alpha-7 deficiency	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000173753	SCV001476629	benign	not specified	2020-03-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001310993	SCV001501001	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ITGA7: BP4, BS2
Fulgent Genetics, Fulgent Genetics	RCV000551754	SCV002798621	likely benign	Congenital muscular dystrophy due to integrin alpha-7 deficiency	2021-11-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955017	SCV004772915	likely benign	ITGA7-related condition	2019-09-05	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).