ClinVar Miner

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

gnomAD frequency: 0.00394  dbSNP: rs77091385
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Total submissions: 8
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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
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV000525039 SCV005264416 likely benign not provided criteria provided, single submitter not provided

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