ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.1404G>A (p.Glu468=)

gnomAD frequency: 0.00001  dbSNP: rs1416000636
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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 RCV001457340 SCV001661141 likely benign Inflammatory skin and bowel disease, neonatal, 1 2019-05-06 criteria provided, single submitter clinical testing

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