Submissions for variant NM_000057.4(BLM):c.2838A>G (p.Thr946=)

gnomAD frequency: 0.00025  dbSNP: rs200850440

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001085829	SCV000283127	benign	Bloom syndrome	2024-01-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000271833	SCV000339649	uncertain significance	not provided	2016-02-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572201	SCV000672928	likely benign	Hereditary cancer-predisposing syndrome	2016-11-17	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.
Sema4, Sema4	RCV000572201	SCV002531772	likely benign	Hereditary cancer-predisposing syndrome	2021-07-21	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000271833	SCV004222464	likely benign	not provided	2023-01-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897510	SCV004717797	likely benign	BLM-related condition	2021-09-14	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).
Natera, Inc.	RCV001085829	SCV002088125	benign	Bloom syndrome	2019-06-24	no assertion criteria provided	clinical testing