ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2620-15C>G (rs139379077)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029499 SCV000052150 uncertain Cystic fibrosis 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Invitae RCV000029499 SCV000284999 benign Cystic fibrosis 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000244736 SCV000304483 likely benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000244736 SCV000601076 uncertain significance not specified 2017-01-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000244736 SCV000603043 benign not specified 2019-01-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000244736 SCV000700535 benign not specified 2016-11-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759758 SCV000889295 benign not provided 2018-07-12 criteria provided, single submitter clinical testing
Mendelics RCV000029499 SCV001137483 likely benign Cystic fibrosis 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001158764 SCV001320419 uncertain significance CFTR-related disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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