ClinVar Miner

Submissions for variant NM_013447.4(ADGRE2):c.2464-17AT[7]

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002913357 SCV003251664 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003926483 SCV004746434 likely benign ADGRE2-related disorder 2020-05-14 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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