ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.362-9del

dbSNP: rs769247529
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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 RCV001496653 SCV001701357 likely benign Inflammatory skin and bowel disease, neonatal, 1 2025-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908774 SCV004722490 likely benign ADAM17-related disorder 2019-08-09 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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