ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.484A>G (p.Lys162Glu)

gnomAD frequency: 0.00362  dbSNP: rs34431503
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000961387 SCV001108431 benign Inflammatory skin and bowel disease, neonatal, 1 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709006 SCV005239164 benign not provided criteria provided, single submitter not provided

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