ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) (rs7971022)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079980 SCV000111871 benign not specified 2013-01-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079980 SCV000308747 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287455 SCV000380240 uncertain significance Congenital Muscular Dystrophy, ITGA7-related 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079980 SCV000519839 benign not specified 2016-03-29 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 RCV000549170 SCV000648313 benign Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 2017-08-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079980 SCV000151470 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.

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