ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val) (rs148641361)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724293 SCV000226604 uncertain significance not provided 2014-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000175166 SCV000525353 likely benign not specified 2016-04-14 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 RCV001087748 SCV000648317 benign Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 2019-12-31 criteria provided, single submitter clinical testing

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