ClinVar Miner

Submissions for variant NM_000245.4(MET):c.-14-4G>A

gnomAD frequency: 0.00331  dbSNP: rs144126521
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000153490 SCV000306704 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285226 SCV000466421 benign Papillary renal cell carcinoma type 1 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001704112 SCV000525130 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27028822)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001704112 SCV001477733 benign not provided 2020-02-18 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000153490 SCV004243299 benign not specified 2024-02-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000153490 SCV000203008 benign not specified 2013-01-17 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000153490 SCV001917428 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000153490 SCV001972374 benign not specified no assertion criteria provided clinical testing

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