ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.1762-17G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003880789 SCV004687844 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003929380 SCV004741848 likely benign ITGB4-related disorder 2019-05-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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