Submissions for variant NM_000081.4(LYST):c.11268-5del

dbSNP: rs36014994

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454746	SCV000539570	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
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625109	SCV000743796	benign	Chédiak-Higashi syndrome	2014-10-09	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625109	SCV000743797	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	RCV000625109	SCV000745212	likely benign	Chédiak-Higashi syndrome	2015-06-11	criteria provided, single submitter	clinical testing
Invitae	RCV000625109	SCV001723931	benign	Chédiak-Higashi syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001573976	SCV001871643	benign	not provided	2019-08-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27781387, 29357941)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263691	SCV002543609	benign	Autoinflammatory syndrome	2019-12-01	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000454746	SCV004102229	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 44% of patients studied by a panel of primary immunodeficiencies. Number of patients: 42. Only high quality variants are reported.
Molecular Genetics, Royal Melbourne Hospital	RCV000625109	SCV004812630	benign	Chédiak-Higashi syndrome	2023-05-04	criteria provided, single submitter	clinical testing	African/African American population allele frequency is 66.84% (rs767372373, 14,577/20,186 alleles, 4,812 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.1.0, this variant is classified as BENIGN. Following criteria are met: BA1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000454746	SCV001741268	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573976	SCV001800616	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000454746	SCV001918491	benign	not specified		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV001573976	SCV002074692	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.