Submissions for variant NM_006892.4(DNMT3B):c.1760-8C>T

dbSNP: rs2424926

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000359565	SCV000433441	likely benign	Immunodeficiency-centromeric instability-facial anomalies syndrome 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV001079114	SCV000634180	benign	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000658910	SCV000780711	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	DNMT3B: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000658910	SCV001159717	benign	not provided	2023-08-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912424	SCV004729623	benign	DNMT3B-related condition	2019-07-03	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000658910	SCV001797331	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702007	SCV001927960	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000658910	SCV001970909	likely benign	not provided		no assertion criteria provided	clinical testing