Submissions for variant NM_000081.4(LYST):c.9C>T (p.Thr3=)

gnomAD frequency: 0.01172  dbSNP: rs33998267

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249486	SCV000301991	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000395413	SCV000355811	uncertain significance	Chédiak-Higashi syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000249486	SCV000539576	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: MAF
Invitae	RCV000395413	SCV000623919	benign	Chédiak-Higashi syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001775707	SCV002013401	likely benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262875	SCV002543682	benign	Autoinflammatory syndrome	2021-05-26	criteria provided, single submitter	clinical testing