Submissions for variant NM_000057.4(BLM):c.3849G>A (p.Gln1283=)

gnomAD frequency: 0.00115  dbSNP: rs140524886

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001081770	SCV000283143	benign	Bloom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574031	SCV000672894	likely benign	Hereditary cancer-predisposing syndrome	2016-09-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga)	RCV000732455	SCV000860416	uncertain significance	not provided	2018-04-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000732455	SCV001149593	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	BLM: BP4, BS2
Illumina Laboratory Services, Illumina	RCV001081770	SCV001276972	uncertain significance	Bloom 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001194358	SCV001363844	likely benign	not specified	2019-10-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001081770	SCV001653366	likely benign	Bloom syndrome	2021-05-18	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000732455	SCV002010751	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001194358	SCV002047089	benign	not specified	2021-05-21	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001194358	SCV002071175	likely benign	not specified	2021-10-08	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000574031	SCV002532577	benign	Hereditary cancer-predisposing syndrome	2020-09-01	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001081770	SCV004016394	benign	Bloom syndrome	2023-07-07	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000732455	SCV001975118	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001081770	SCV002090617	likely benign	Bloom syndrome	2017-04-25	no assertion criteria provided	clinical testing