ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.-8G>C (rs1800501)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078974 SCV000110839 benign not specified 2017-07-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000078974 SCV000197432 benign not specified 2013-02-21 criteria provided, single submitter clinical testing -8G>C in exon 1 of CFTR: This variant is not expected to have clinical significa nce because it has been identified in 5.5% (477/8600) of European American chrom osomes from a broad population by the NHLBI Exome Sequencing Project (http://evs .gs.washington.
PreventionGenetics,PreventionGenetics RCV000078974 SCV000304468 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095139 SCV000466501 likely benign CFTR-related disorders 2018-01-13 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282632 SCV000602972 benign none provided 2020-08-27 criteria provided, single submitter clinical testing
CFTR-France RCV000280367 SCV001169198 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Invitae RCV000280367 SCV001718079 benign Cystic fibrosis 2020-12-05 criteria provided, single submitter clinical testing

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