ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.654A>G (p.Pro218=)

gnomAD frequency: 0.00001  dbSNP: rs755105372
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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 RCV002151466 SCV002469087 likely benign Inflammatory skin and bowel disease, neonatal, 1 2022-07-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895995 SCV004712780 likely benign ADAM17-related disorder 2021-03-22 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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