Submissions for variant NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His)

gnomAD frequency: 0.00021  dbSNP: rs563033366

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001558795	SCV001780813	likely benign	not provided	2020-01-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002072112	SCV002401555	benign	Genitopatellar syndrome	2024-10-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002495892	SCV002801167	likely benign	Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type	2022-04-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002568381	SCV003728994	likely benign	Inborn genetic diseases	2022-10-12	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.
Revvity Omics, Revvity	RCV001558795	SCV003813951	uncertain significance	not provided	2019-03-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001558795	SCV004126824	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	KAT6B: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV004542008	SCV004785821	likely benign	KAT6B-related disorder	2022-08-17	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).