ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1210-13G>T (rs10229820)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150332 SCV000197434 benign not specified 2014-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150332 SCV000202436 benign not specified 2014-01-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315118 SCV000466507 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000150332 SCV000602974 benign not specified 2018-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001172258 SCV001170543 likely benign Inborn genetic diseases 2018-10-09 criteria provided, single submitter clinical testing Other strong data

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