Submissions for variant NM_000081.4(LYST):c.10800+4G>T

gnomAD frequency: 0.00441  dbSNP: rs41308172

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000301556	SCV000355695	uncertain significance	Chédiak-Higashi syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000499658	SCV000595656	likely benign	not specified	2015-12-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000301556	SCV000623889	benign	Chédiak-Higashi syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000301556	SCV000743799	likely benign	Chédiak-Higashi syndrome	2014-10-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001555913	SCV001777406	likely benign	not provided	2021-02-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262931	SCV002543604	likely benign	Autoinflammatory syndrome	2021-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001555913	SCV002544379	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	LYST: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001555913	SCV001798119	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000499658	SCV001925227	benign	not specified		no assertion criteria provided	clinical testing