ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2989-3C>G

dbSNP: rs397508471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000577459 SCV000886376 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474563 SCV004213338 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-12-05 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577459 SCV000679034 not provided Cystic fibrosis no assertion provided literature only

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