ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.1966G>C (p.Ala656Pro)

gnomAD frequency: 0.00172  dbSNP: rs587780309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116660 SCV000150624 uncertain significance not provided 2014-02-24 criteria provided, single submitter clinical testing
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000735342 SCV000854496 uncertain significance Diabetes mellitus type 1; Glomerulonephritis; Autoimmunity; Chronic gastritis; Gastritis; Crescentic glomerulonephritis; Chronic kidney disease; Thyroiditis; Autosomal dominant inheritance; Diabetes mellitus; X-linked dominant inheritance criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000116660 SCV005190553 uncertain significance not provided criteria provided, single submitter not provided

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