ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.604A>G (p.Arg202Gly)

gnomAD frequency: 0.06968  dbSNP: rs2230818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547882 SCV000651915 benign Inflammatory skin and bowel disease, neonatal, 1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001692182 SCV001913283 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692182 SCV005245703 benign not provided criteria provided, single submitter not provided

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