ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.25dup (p.Ala9fs)

dbSNP: rs1584764596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV001009447 SCV001169498 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Baylor Genetics RCV003473559 SCV004213411 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-09-02 criteria provided, single submitter clinical testing

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