ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) (rs142647321)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000203118 SCV000229860 benign not specified 2016-04-22 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000203118 SCV000257799 benign not specified 2015-04-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000755251 SCV000410213 benign Hereditary sensory neuropathy type IE 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 RCV001573463 SCV000512839 benign not provided 2019-06-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282765 SCV000603384 benign none provided 2020-05-06 criteria provided, single submitter clinical testing
Invitae RCV000755251 SCV000651313 likely benign Hereditary sensory neuropathy type IE 2020-12-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573463 SCV001799374 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001573463 SCV001924860 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573463 SCV001927885 likely benign not provided no assertion criteria provided clinical testing

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