ClinVar Miner

Submissions for variant NM_002207.3(ITGA9):c.545-8C>G

gnomAD frequency: 0.52714  dbSNP: rs2507940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455184 SCV000539399 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 57% of total chromosomes in ExAC
Breakthrough Genomics, Breakthrough Genomics RCV004708895 SCV005238107 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972713 SCV004798689 benign ITGA9-related disorder 2019-08-02 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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