Submissions for variant NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr)

gnomAD frequency: 0.00967  dbSNP: rs150682895

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000859846	SCV000634175	benign	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	2025-01-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000541530	SCV000743434	benign	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	2014-10-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000541530	SCV001301556	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573975	SCV001473000	benign	not provided	2023-10-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573975	SCV002496666	benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	DNMT3B: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001573975	SCV005315079	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000541530	SCV000734064	likely benign	Immunodeficiency-centromeric instability-facial anomalies syndrome 1		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573975	SCV001800612	likely benign	not provided		no assertion criteria provided	clinical testing