ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1581A>G (p.Glu527=) (rs1800094)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029479 SCV000052129 benign Hereditary pancreatitis 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150336 SCV000197438 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Glu527Glu in exon 11 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 1.9% (82/4406) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs1800094).
PreventionGenetics,PreventionGenetics RCV000150336 SCV000304475 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095254 SCV000466515 likely benign CFTR-related disorders 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000259423 SCV000562308 benign Cystic fibrosis 2020-11-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282721 SCV000602996 benign none provided 2019-12-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755237 SCV000889289 likely benign not provided 2019-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012258 SCV001172690 benign Inborn genetic diseases 2014-06-12 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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