Submissions for variant NM_018965.4(TREM2):c.632T>C (p.Leu211Pro)

gnomAD frequency: 0.04010  dbSNP: rs2234256

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000288246	SCV000462946	likely benign	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	2016-06-14	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000593161	SCV000703577	benign	not specified	2016-11-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516643	SCV001724952	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001516643	SCV001949047	benign	not provided	2020-03-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30917570, 25886450)
Breakthrough Genomics, Breakthrough Genomics	RCV001516643	SCV005223760	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001516643	SCV001799188	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000593161	SCV001807622	benign	not specified		no assertion criteria provided	clinical testing