ClinVar Miner

Submissions for variant NM_003183.6(ADAM17):c.2083-60A>G

gnomAD frequency: 0.42096  dbSNP: rs10495562
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001548959 SCV001768982 benign Inflammatory skin and bowel disease, neonatal, 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001655875 SCV001869175 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394133 SCV004102080 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 54% of patients studied by a panel of primary immunodeficiencies. Number of patients: 52. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001655875 SCV005246582 benign not provided criteria provided, single submitter not provided

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