ClinVar Miner

Submissions for variant NM_013447.4(ADGRE2):c.138C>A (p.Arg46=)

gnomAD frequency: 0.00006  dbSNP: rs202128202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246861 SCV002516693 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003574895 SCV004328904 likely benign not provided 2024-05-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943326 SCV004763348 likely benign ADGRE2-related disorder 2022-10-17 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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