Submissions for variant NM_000081.4(LYST):c.3507C>T (p.Leu1169=)

gnomAD frequency: 0.00083  dbSNP: rs74861744

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625112	SCV000743803	likely benign	Chédiak-Higashi syndrome	2017-09-27	criteria provided, single submitter	clinical testing
Invitae	RCV000625112	SCV000750158	likely benign	Chédiak-Higashi syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263839	SCV002543626	uncertain significance	Autoinflammatory syndrome	2017-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001726276	SCV003916567	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	LYST: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001701410	SCV004038853	likely benign	not specified	2023-08-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701410	SCV001918067	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726276	SCV001968112	likely benign	not provided		no assertion criteria provided	clinical testing