ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3718-1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003150893 SCV003839088 pathogenic Cystic fibrosis 2022-12-27 criteria provided, single submitter clinical testing This CFTR canonical splice site variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. This variant alters a canonical splice acceptor site and is predicted to cause abnormal gene splicing. We consider CFTR c.3718-1G>C to be pathogenic.
Baylor Genetics RCV003466022 SCV004215214 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-01-12 criteria provided, single submitter clinical testing

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