ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.891+8C>T

gnomAD frequency: 0.00299  dbSNP: rs117294281
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000174041 SCV000225274 likely benign not specified 2014-12-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174041 SCV000306774 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000543823 SCV000410255 benign Hereditary sensory neuropathy-deafness-dementia syndrome 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.
GeneDx RCV000174041 SCV000512832 benign not specified 2016-06-21 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.
Invitae RCV000543823 SCV000651325 benign Hereditary sensory neuropathy-deafness-dementia syndrome 2021-12-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001572674 SCV001472105 likely benign not provided 2021-07-21 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572674 SCV001797408 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000174041 SCV001921258 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572674 SCV001929057 likely benign not provided no assertion criteria provided clinical testing

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