Submissions for variant NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)

gnomAD frequency: 0.00092  dbSNP: rs35224686

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000724734	SCV000149192	likely benign	not provided	2021-08-31	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga)	RCV000724734	SCV000231997	uncertain significance	not provided	2018-03-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000465434	SCV000555823	benign	Bloom syndrome	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575229	SCV000672917	likely benign	Hereditary cancer-predisposing syndrome	2018-11-28	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.
Mendelics	RCV000465434	SCV000838960	uncertain significance	Bloom syndrome	2018-07-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818262	SCV002066535	likely benign	not specified	2021-04-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001818262	SCV002511748	uncertain significance	not specified	2022-04-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000575229	SCV002531382	likely benign	Hereditary cancer-predisposing syndrome	2021-03-28	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000724734	SCV004222436	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000465434	SCV004807849	uncertain significance	Bloom syndrome	2024-03-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000465434	SCV002092374	likely benign	Bloom syndrome	2017-08-10	no assertion criteria provided	clinical testing