ClinVar Miner

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

gnomAD frequency: 0.00075  dbSNP: rs148641361
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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 Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724293 SCV004133432 benign not provided 2023-02-01 criteria provided, single submitter clinical testing ITGA7: BS1, BS2

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