Submissions for variant NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)

dbSNP: rs770780171

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000626985	SCV000747688	pathogenic	Venous malformation	2017-01-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001090224	SCV001245628	pathogenic	not provided	2024-02-01	criteria provided, single submitter	clinical testing	GLMN: PVS1, PM2, PP4, PS4:Supporting
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV001254162	SCV001430118	pathogenic	Glomuvenous malformation	2020-01-16	criteria provided, single submitter	clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV001254162	SCV004013991	pathogenic	Glomuvenous malformation	2022-12-08	criteria provided, single submitter	clinical testing	PVS1, PM2, PP5
GeneDx	RCV001090224	SCV005414710	pathogenic	not provided	2024-05-19	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32538359, 23375657, 15689436, 24345188, 25525159, 19250411, 28655553, 34426522, 35216474, 35807022, 35732373, 11845407)
Clinical Genetics, Academic Medical Center	RCV001090224	SCV001918475	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001090224	SCV001965036	pathogenic	not provided		no assertion criteria provided	clinical testing