ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1721C>A (p.Pro574His) (rs121908758)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007539 SCV000924269 pathogenic Cystic fibrosis 2017-12-08 reviewed by expert panel research
Baylor Genetics RCV001004269 SCV001163145 likely pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV001009367 SCV001169220 pathogenic Cystic fibrosis; CFTR-related disorders 2018-03-09 criteria provided, single submitter curation when the variant is in trans with another CF-causing variation, can either result in CF or in a CFTR-RD
Myriad Women's Health, Inc. RCV000007539 SCV001194016 likely pathogenic Cystic fibrosis 2019-12-16 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.1721C>A(P574H) is classified as likely pathogenic in the context of cystic fibrosis. Sources cited for classification include the following: PMID 16132229, 20059485, 12815607, 10362539, 7534226, 10923036 and 754013. Classification of NM_000492.3(CFTR):c.1721C>A(P574H) is based on the following criteria: This variant has been observed more frequently in patients with clinical diagnoses and is very rare or not present in genetic databases of healthy individuals. Please note: this variant was assessed in the context of healthy population screening.
OMIM RCV000007539 SCV000027740 pathogenic Cystic fibrosis 1990-11-01 no assertion criteria provided literature only

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