ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) (rs144983062)

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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 RCV000079985 SCV000111876 benign not specified 2013-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000079985 SCV000513295 benign not specified 2017-12-05 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079985 SCV000539398 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant reported in homozygous state in individual with congenital fiber-type disproportion - individual had hypotonia but pulmonary phenotypes were not reported. However, variant has high frequency, 5 homozygotes are present in ExAC, and Emory classifies as benign.
Invitae RCV000531646 SCV000648323 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Mendelics RCV000988860 SCV001138752 benign Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000531646 SCV001148760 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing

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