ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1210-12T[9] (rs1805177)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150334 SCV000197436 benign not specified 2014-04-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000150334 SCV000224840 benign not specified 2014-09-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390508 SCV000466509 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515121 SCV000610226 likely benign not provided 2017-08-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282294 SCV001160048 benign none provided 2020-08-20 criteria provided, single submitter clinical testing
CFTR-France RCV000390508 SCV001169202 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Ambry Genetics RCV001172256 SCV001170541 likely benign Inborn genetic diseases 2018-11-06 criteria provided, single submitter clinical testing Intact protein function observed by in vitro/ex vivo assays;Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;Other strong data
Invitae RCV000390508 SCV001717927 benign Cystic fibrosis 2020-12-03 criteria provided, single submitter clinical testing
GeneReviews RCV000390508 SCV001652693 likely benign Cystic fibrosis 2017-02-02 no assertion criteria provided literature only The severity of lung disease in individuals heterozygous or homozygous for p.Arg117His depends on the presence of a variation in the poly T tract of intron 9, c.1210-12T[5_9] [Massie et al 2001]. Individuals with a CF-causing variant plus the 5T variant in cis with p.Arg117His usually develop the lung disease of CF, but those individuals with p.Arg117His and the 7T variant or the 9T variant have a highly variable phenotype that can range from no symptoms to mild lung disease [Kiesewetter et al 1993, Chmiel et al 1999].

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