ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3717+4A>G (rs387906362)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007558 SCV000245988 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000007558 SCV001169359 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Myriad Women's Health, Inc. RCV000007558 SCV001193793 likely pathogenic Cystic fibrosis 2019-11-12 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.3717+4A>G is classified as likely pathogenic in the context of cystic fibrosis. Sources cited for classification include the following: PMID 17825628, 12815607, 9003508, 1371265 and 17825628. Classification of NM_000492.3(CFTR):c.3717+4A>G is based on the following criteria: This variant has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
OMIM RCV000007558 SCV000027759 pathogenic Cystic fibrosis 1992-02-01 no assertion criteria provided literature only

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