ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.869+11C>T (rs1800503)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079014 SCV000602973 benign not specified 2016-10-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079014 SCV000110883 benign not specified 2016-05-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402385 SCV000466506 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079014 SCV000197433 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 869+11C>T in intron 7 of CFTR: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce. It has been identified in 16.3% (1400/8596) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs1800503).
PreventionGenetics RCV000079014 SCV000304504 benign not specified criteria provided, single submitter clinical testing

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