Submissions for variant NM_000081.4(LYST):c.10941-7C>A

gnomAD frequency: 0.00614  dbSNP: rs72761794

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224460	SCV000280896	likely benign	not provided	2016-03-18	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV000364399	SCV000355693	uncertain significance	Chédiak-Higashi syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000364399	SCV000623890	benign	Chédiak-Higashi syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000364399	SCV000743798	likely benign	Chédiak-Higashi syndrome	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000364399	SCV000745213	benign	Chédiak-Higashi syndrome	2016-11-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000224460	SCV001764153	likely benign	not provided	2021-04-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262832	SCV002543606	benign	Autoinflammatory syndrome	2022-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224460	SCV002821475	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	LYST: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224460	SCV001800603	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699241	SCV001919954	benign	not specified		no assertion criteria provided	clinical testing