ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) (rs761669740)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000374600 SCV000343985 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095183 SCV000466530 uncertain significance CFTR-related disorders 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000305714 SCV000751422 likely benign Cystic fibrosis 2020-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000374600 SCV000883598 likely benign not provided 2017-07-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000374600 SCV000889310 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780148 SCV000917194 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022232 SCV001183945 likely benign Inborn genetic diseases 2015-02-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000305714 SCV001460122 uncertain significance Cystic fibrosis 2018-05-07 no assertion criteria provided clinical testing

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