ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1117-26_1117-25del

dbSNP: rs397508159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811318 SCV001158230 benign not provided 2019-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000577778 SCV001595156 likely benign Cystic fibrosis 2023-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001811318 SCV005079038 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing Identified in individuals with cystic fibrosis in published literature, but in whom limited clinical data was provided and a second CFTR variant was either not detected or not specified (Scotet et al., 2003; Raraigh et al., 2022); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 34782259, 12815607)
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577778 SCV000679078 not provided Cystic fibrosis no assertion provided literature only

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