ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val)

gnomAD frequency: 0.00295  dbSNP: rs113651939
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192591 SCV000247638 likely benign not specified 2014-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000192591 SCV000308752 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000192591 SCV000336441 benign not specified 2015-10-26 criteria provided, single submitter clinical testing
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001085864 SCV000648324 benign Congenital muscular dystrophy due to integrin alpha-7 deficiency 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001085864 SCV002806122 likely benign Congenital muscular dystrophy due to integrin alpha-7 deficiency 2021-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513998 SCV004133431 benign not provided 2023-09-01 criteria provided, single submitter clinical testing ITGA7: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000513998 SCV005213221 likely benign not provided criteria provided, single submitter not provided

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