ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) (rs397508436)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595350 SCV000709044 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing
CFTR-France RCV001009477 SCV001169572 pathogenic CFTR-related disorders 2018-01-29 criteria provided, single submitter curation
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577327 SCV000679022 not provided Cystic fibrosis no assertion provided literature only

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