ClinVar Miner

Submissions for variant NM_005235.3(ERBB4):c.2488-10T>C

gnomAD frequency: 0.00004  dbSNP: rs573759866
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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 RCV002136457 SCV002461218 benign not provided 2023-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951260 SCV004764663 likely benign ERBB4-related disorder 2023-10-10 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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