Submissions for variant NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs)

dbSNP: rs199470480

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128655	SCV001167883	pathogenic	not provided	2024-08-11	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in abnormal protein length as the last 436 amino acids are replaced with 26 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22077973, 35991575, Daniels2023[Poster], 25424711)
CeGaT Center for Human Genetics Tuebingen	RCV000128655	SCV002062922	likely pathogenic	not provided	2021-12-01	criteria provided, single submitter	clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV003319322	SCV005417665	likely pathogenic	Blepharophimosis - intellectual disability syndrome, SBBYS type		criteria provided, single submitter	clinical testing	PM2_Supporting+PVS1_Strong+PM6_Supporting+PP4
Lee Lab(KAT6B), Baylor College of Medicine	RCV000128655	SCV000172295	not provided	not provided		no assertion provided	not provided
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	RCV003319322	SCV004023322	pathogenic	Blepharophimosis - intellectual disability syndrome, SBBYS type		no assertion criteria provided	clinical testing