ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.5219-3C>T

gnomAD frequency: 0.00044  dbSNP: rs200010813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310381 SCV001500153 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001310381 SCV003488006 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963208 SCV004780202 likely benign ITGB4-related disorder 2022-12-19 no assertion criteria provided 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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