ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2819_2823del (p.Thr940fs)

dbSNP: rs2485122171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003325049 SCV004030830 pathogenic not provided 2023-02-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.2949_2853delTACTC; This variant is associated with the following publications: (PMID: 34782259, 16189704)
Baylor Genetics RCV004572930 SCV005057450 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2024-01-08 criteria provided, single submitter clinical testing

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