Submissions for variant NM_000057.4(BLM):c.3867A>G (p.Thr1289=)

gnomAD frequency: 0.00001  dbSNP: rs759000443

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000628692	SCV000749598	likely benign	Bloom syndrome	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001021317	SCV001182917	likely benign	Hereditary cancer-predisposing syndrome	2018-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003478340	SCV004222490	likely benign	not provided	2023-01-17	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000628692	SCV001456906	likely benign	Bloom syndrome	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905678	SCV004732574	likely benign	BLM-related disorder	2022-01-31	no assertion criteria provided	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).