Submissions for variant NM_000081.4(LYST):c.1686G>C (p.Gln562His)

gnomAD frequency: 0.00394  dbSNP: rs77091385

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247334	SCV000301959	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001081207	SCV000623893	likely benign	Chédiak-Higashi syndrome	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000525039	SCV001147727	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	LYST: BP4
Illumina Laboratory Services, Illumina	RCV001081207	SCV001253037	likely benign	Chédiak-Higashi syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001081207	SCV001984034	benign	Chédiak-Higashi syndrome	2020-03-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262861	SCV002543290	likely benign	Autoinflammatory syndrome	2021-03-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001081207	SCV003799768	uncertain significance	Chédiak-Higashi syndrome	2022-09-13	criteria provided, single submitter	clinical testing