Submissions for variant NM_000081.4(LYST):c.7506A>G (p.Gln2502=)

gnomAD frequency: 0.00106  dbSNP: rs140434436

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244233	SCV000301987	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000342045	SCV000355727	uncertain significance	Chédiak-Higashi syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000244233	SCV000595660	likely benign	not specified	2017-03-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000342045	SCV000743801	likely benign	Chédiak-Higashi syndrome	2017-07-26	criteria provided, single submitter	clinical testing
Invitae	RCV000342045	SCV000750157	likely benign	Chédiak-Higashi syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262872	SCV002543660	uncertain significance	Autoinflammatory syndrome	2018-03-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001726072	SCV004126152	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	LYST: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000244233	SCV001923573	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726072	SCV001968065	likely benign	not provided		no assertion criteria provided	clinical testing