ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.-288G>C

dbSNP: rs139688774
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234784 SCV000284992 benign Cystic fibrosis 2023-01-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594464 SCV000706996 likely benign not specified 2017-03-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256134 SCV002529706 likely benign Hereditary pancreatitis 2021-05-30 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478837 SCV002774532 likely benign not provided 2023-07-25 criteria provided, single submitter clinical testing

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