Submissions for variant NM_000057.4(BLM):c.4077-5T>C

gnomAD frequency: 0.00005  dbSNP: rs200653178

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000539615	SCV000623329	likely benign	Bloom syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001021816	SCV001183481	benign	Hereditary cancer-predisposing syndrome	2019-10-04	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001021816	SCV002533051	uncertain significance	Hereditary cancer-predisposing syndrome	2021-07-28	criteria provided, single submitter	curation
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702499	SCV001929233	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702499	SCV001964122	likely benign	not provided		no assertion criteria provided	clinical testing