ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)

dbSNP: rs397508797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000577538 SCV000793409 uncertain significance Cystic fibrosis 2017-08-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV004566888 SCV005057481 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-11-09 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577538 SCV000679183 not provided Cystic fibrosis no assertion provided literature only

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