ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2898G>A (p.Thr966=) (rs1800109)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755236 SCV000602992 benign not provided 2017-05-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152996 SCV000202439 benign not specified 2017-10-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029508 SCV000466520 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029508 SCV000052159 likely benign Cystic fibrosis 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000029508 SCV000285001 benign Cystic fibrosis 2017-12-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152996 SCV000268871 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr966Thr in exon 17 of CFTR: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.5% (68/4406) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1800109).
PreventionGenetics RCV000152996 SCV000304485 benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755236 SCV000889302 benign not provided 2016-07-13 criteria provided, single submitter clinical testing

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