Submissions for variant NM_000057.4(BLM):c.3609G>A (p.Ala1203=)

gnomAD frequency: 0.00001  dbSNP: rs151114049

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473335	SCV000555821	likely benign	Bloom syndrome	2024-12-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570671	SCV000672885	likely benign	Hereditary cancer-predisposing syndrome	2018-05-18	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.
Sema4, Sema4	RCV000570671	SCV002532500	likely benign	Hereditary cancer-predisposing syndrome	2021-03-08	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003392288	SCV004130913	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	BLM: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003392288	SCV004222484	likely benign	not provided	2022-12-13	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000473335	SCV001462153	uncertain significance	Bloom syndrome	2020-01-24	no assertion criteria provided	clinical testing