ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu)

gnomAD frequency: 0.00333  dbSNP: rs149403824
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440046 SCV000523527 likely benign not specified 2017-01-10 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.
Genetic Services Laboratory, University of Chicago RCV000440046 SCV000595275 uncertain significance not specified 2016-10-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000537886 SCV000648315 benign Congenital muscular dystrophy due to integrin alpha-7 deficiency 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003959910 SCV004775094 benign ITGA7-related disorder 2019-04-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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