ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.164+1G>C

dbSNP: rs397508243
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000577757 SCV000800395 likely pathogenic Cystic fibrosis 2018-06-05 criteria provided, single submitter clinical testing
CFTR-France RCV000577757 SCV001169389 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Baylor Genetics RCV003466899 SCV004215782 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2022-03-28 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577757 SCV000679115 not provided Cystic fibrosis no assertion provided literature only

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