Submissions for variant NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=)

gnomAD frequency: 0.05018  dbSNP: rs17117883

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000117295	SCV000308755	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000117295	SCV000519709	benign	not specified	2016-02-26	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000558162	SCV000648328	benign	Congenital muscular dystrophy due to integrin alpha-7 deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000117295	SCV001880139	benign	not specified	2021-02-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004706533	SCV005232500	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117295	SCV000151473	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.