Submissions for variant NM_000057.4(BLM):c.3225A>G (p.Arg1075=)

gnomAD frequency: 0.00024  dbSNP: rs7171673

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000565495	SCV000672941	likely benign	Hereditary cancer-predisposing syndrome	2017-02-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000628698	SCV000749604	likely benign	Bloom syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821684	SCV002068907	likely benign	not specified	2020-01-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000565495	SCV002530105	likely benign	Hereditary cancer-predisposing syndrome	2021-05-19	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003478276	SCV004222477	likely benign	not provided	2023-09-08	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000628698	SCV001454874	likely benign	Bloom syndrome	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962635	SCV004781886	likely benign	BLM-related disorder	2019-02-21	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).