ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.2134-11T>C

gnomAD frequency: 0.00040  dbSNP: rs79715435
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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 RCV001519947 SCV001728914 benign Inflammatory skin and bowel disease, neonatal, 1 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001519947 SCV002811916 likely benign Inflammatory skin and bowel disease, neonatal, 1 2021-09-13 criteria provided, single submitter clinical testing

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