ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3712C>T (p.Gln1238Ter) (rs121908766)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV000007596 SCV001169357 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Myriad Women's Health, Inc. RCV000007596 SCV001193807 likely pathogenic Cystic fibrosis 2019-11-12 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.3712C>T(Q1238*) is classified as likely pathogenic in the context of cystic fibrosis. Sources cited for classification include the following: PMID 11788090, 6963320, 14696845, and 14641997. Classification of NM_000492.3(CFTR):c.3712C>T(Q1238*) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is observed in an individual with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.‚Äã
OMIM RCV000007596 SCV000027797 pathogenic Cystic fibrosis 2018-04-09 no assertion criteria provided literature only

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