Submissions for variant NM_000057.4(BLM):c.1086C>T (p.Asp362=)

gnomAD frequency: 0.00011  dbSNP: rs375632163

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085620	SCV000283108	likely benign	Bloom syndrome	2025-01-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000352401	SCV000336210	uncertain significance	not provided	2015-10-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573154	SCV000672911	likely benign	Hereditary cancer-predisposing syndrome	2017-06-22	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.
Genetic Services Laboratory, University of Chicago	RCV001818552	SCV002069510	likely benign	not specified	2018-11-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000573154	SCV002531249	likely benign	Hereditary cancer-predisposing syndrome	2021-03-30	criteria provided, single submitter	curation
Natera, Inc.	RCV001085620	SCV001460770	likely benign	Bloom syndrome	2020-09-16	no assertion criteria provided	clinical testing