ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.2073C>T (p.Val691=)

gnomAD frequency: 0.00066  dbSNP: rs34355677
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000649855 SCV000771689 benign Inflammatory skin and bowel disease, neonatal, 1 2023-10-05 criteria provided, single submitter clinical testing

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