Submissions for variant NM_006892.4(DNMT3B):c.42C>T (p.Ala14=)

gnomAD frequency: 0.00027  dbSNP: rs730823

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000636692	SCV000758132	benign	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141113	SCV001301438	likely benign	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	2017-05-23	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736867	SCV004562386	likely benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945606	SCV004759124	likely benign	DNMT3B-related condition	2020-01-09	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).