ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT

dbSNP: rs397515289
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029531 SCV000052183 uncertain Hereditary pancreatitis 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998108 SCV000601105 uncertain significance not provided 2024-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482912 SCV002781162 uncertain significance Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2021-07-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272364 SCV001454280 uncertain significance Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

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