ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.204A>G (p.Thr68=)

gnomAD frequency: 0.00008  dbSNP: rs567931151
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002199905 SCV002358233 likely benign Inflammatory skin and bowel disease, neonatal, 1 2024-12-02 criteria provided, single submitter clinical testing

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