ClinVar Miner

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

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Total submissions: 7
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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 RCV000150334 SCV001160048 benign not specified 2018-10-18 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

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