Submissions for variant NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)

gnomAD frequency: 0.00669  dbSNP: rs146591126

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195150	SCV000247877	likely benign	not specified	2015-02-26	criteria provided, single submitter	clinical testing
Invitae	RCV000549951	SCV000623906	benign	Chédiak-Higashi syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000195150	SCV000859127	likely benign	not specified	2018-01-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262788	SCV002543647	likely benign	Autoinflammatory syndrome	2021-07-20	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000549951	SCV002801883	likely benign	Chédiak-Higashi syndrome	2021-08-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003417700	SCV004126157	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LYST: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003917757	SCV004732236	benign	LYST-related disorder	2019-09-20	criteria provided, single submitter	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).