ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.450+18T>G

gnomAD frequency: 0.00006  dbSNP: rs780179175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002108302 SCV002434925 likely benign Inflammatory skin and bowel disease, neonatal, 1 2024-11-05 criteria provided, single submitter clinical testing

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