ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)

dbSNP: rs397508541
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000577688 SCV000797734 uncertain significance Cystic fibrosis 2018-02-13 criteria provided, single submitter clinical testing
CFTR-France RCV001009499 SCV001169594 pathogenic CFTR-related disorder 2015-07-03 criteria provided, single submitter curation
Genome-Nilou Lab RCV000577688 SCV001821991 likely pathogenic Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577688 SCV000679049 not provided Cystic fibrosis no assertion provided literature only

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