Submissions for variant NM_018965.4(TREM2):c.185G>A (p.Arg62His)

gnomAD frequency: 0.00714  dbSNP: rs143332484

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513870	SCV000610218	likely benign	not provided	2017-02-20	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000591525	SCV000705438	benign	not specified	2017-01-25	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625434	SCV000745350	benign	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000513870	SCV001025210	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513870	SCV001154742	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	TREM2: BP4, BS1, BS2
GeneDx	RCV000513870	SCV001897198	benign	not provided	2020-10-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29723869, 30530974, 28714976, 26754641, 29557178, 28430856, 29177109, 26021840, 24899047, 25886450)
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625434	SCV000745889	likely benign	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	2015-09-14	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000591525	SCV001807410	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000513870	SCV002035656	likely benign	not provided		no assertion criteria provided	clinical testing