Submissions for variant NM_000057.4(BLM):c.174T>C (p.Pro58=)

gnomAD frequency: 0.00023  dbSNP: rs576862402

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123837	SCV000167180	benign	not specified	2014-02-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000559026	SCV000623236	likely benign	Bloom syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563187	SCV000672912	likely benign	Hereditary cancer-predisposing syndrome	2017-05-04	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	RCV000563187	SCV002533625	likely benign	Hereditary cancer-predisposing syndrome	2021-08-04	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003945115	SCV004770870	likely benign	BLM-related condition	2020-02-17	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.	RCV000559026	SCV002089895	likely benign	Bloom syndrome	2018-04-09	no assertion criteria provided	clinical testing