ClinVar Miner

Submissions for variant NM_002206.2(ITGA7):c.2701A>G (p.Ile901Val) (rs113651939)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513998 SCV000610574 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000192591 SCV000336441 benign not specified 2015-10-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192591 SCV000247638 likely benign not specified 2014-10-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320130 SCV000380232 uncertain significance Congenital Muscular Dystrophy, ITGA7-related 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000539516 SCV000648324 benign Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 2017-11-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000192591 SCV000308752 benign not specified criteria provided, single submitter clinical testing

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