Submissions for variant NM_012330.4(KAT6B):c.375C>T (p.Ser125=)

gnomAD frequency: 0.00269  dbSNP: rs41314998

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000427991	SCV000533905	benign	not provided	2016-11-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513016	SCV001720545	benign	Genitopatellar syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494943	SCV002797937	likely benign	Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type	2021-09-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000427991	SCV004033051	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	KAT6B: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000427991	SCV005315882	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004537695	SCV004746000	benign	KAT6B-related disorder	2019-05-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).