ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.614C>G (p.Pro205Arg)

dbSNP: rs397508769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002004711 SCV002231369 uncertain significance Cystic fibrosis 2021-09-01 criteria provided, single submitter clinical testing
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand RCV002004711 SCV004034105 likely pathogenic Cystic fibrosis 2023-07-01 criteria provided, single submitter research

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