ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.7137A>C (p.Leu2379=)

gnomAD frequency: 0.02884  dbSNP: rs61738992
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252561 SCV000301986 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312923 SCV000355732 likely benign Chédiak-Higashi syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000252561 SCV000539571 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV000312923 SCV000623913 benign Chédiak-Higashi syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001668405 SCV001884685 benign not provided 2019-04-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262871 SCV002543657 benign Autoinflammatory syndrome 2022-03-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000252561 SCV002034071 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001668405 SCV002037039 likely benign not provided no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001668405 SCV002074698 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.