ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.150C>T (p.His50=)

gnomAD frequency: 0.00182  dbSNP: rs146112081
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724451 SCV000228947 uncertain significance not provided 2014-12-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000250596 SCV000306763 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084104 SCV000410270 benign Hereditary sensory neuropathy-deafness-dementia syndrome 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 RCV000250596 SCV000518459 benign not specified 2015-09-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084104 SCV000651283 benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000724451 SCV001473303 likely benign not provided 2023-10-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724451 SCV004139497 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing DNMT1: BP4, BP7
Clinical Genetics, Academic Medical Center RCV000724451 SCV001918468 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724451 SCV001930620 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724451 SCV001968430 likely benign not provided no assertion criteria provided clinical testing

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