Submissions for variant NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)

dbSNP: rs2234253

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000312921	SCV000462949	likely benign	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000444438	SCV000511041	benign	not provided	2016-09-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000591330	SCV000703579	benign	not specified	2016-11-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000444438	SCV001724953	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000444438	SCV001949046	benign	not provided	2020-03-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25042114, 28430856, 28789839, 29723869)
Breakthrough Genomics, Breakthrough Genomics	RCV000444438	SCV005223763	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000444438	SCV001797600	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000591330	SCV001808891	benign	not specified		no assertion criteria provided	clinical testing