Submissions for variant NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu)

gnomAD frequency: 0.00066  dbSNP: rs148185533

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000366417	SCV000341122	uncertain significance	not provided	2016-04-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000350950	SCV000410023	uncertain significance	Bone Paget disease	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390248	SCV000410024	uncertain significance	Osteopetrosis	2016-06-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764168	SCV000895170	uncertain significance	Paget disease of bone 2, early-onset; Familial expansile osteolysis; Autosomal recessive osteopetrosis 7	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000366417	SCV002451843	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000366417	SCV004143226	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	TNFRSF11A: BS2
PreventionGenetics, part of Exact Sciences	RCV003940032	SCV004754566	benign	TNFRSF11A-related disorder	2022-10-17	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).