ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.1915-9del

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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 RCV003839576 SCV004639148 benign Inflammatory skin and bowel disease, neonatal, 1 2023-11-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756551 SCV005353938 likely benign ADAM17-related disorder 2019-03-22 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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