Submissions for variant NM_001211.6(BUB1B):c.10G>A (p.Val4Met)

gnomAD frequency: 0.00192  dbSNP: rs147549987

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000475422	SCV000554081	likely benign	Mosaic variegated aneuploidy syndrome 1	2024-01-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000120414	SCV000859971	likely benign	not specified	2018-03-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002515823	SCV003675944	likely benign	Inborn genetic diseases	2021-08-27	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004704871	SCV005214445	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000120414	SCV000084566	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV003935141	SCV004756053	likely benign	BUB1B-related disorder	2021-04-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).