Submissions for variant NM_001211.6(BUB1B):c.573C>A (p.Ser191=)

gnomAD frequency: 0.00048  dbSNP: rs138809057

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000558456	SCV000640414	benign	Mosaic variegated aneuploidy syndrome 1	2024-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350276	SCV002651610	likely benign	Inborn genetic diseases	2022-02-12	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316707	SCV004016941	benign	Colorectal cancer	2023-07-07	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005235398	SCV005880631	benign	Premature chromatid separation trait	2025-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528523	SCV001740384	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528523	SCV001974498	likely benign	not provided		no assertion criteria provided	clinical testing