Submissions for variant NM_000237.3(LPL):c.1018+34A>G

gnomAD frequency: 0.00372  dbSNP: rs190249506

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513258	SCV001720850	benign	not provided	2023-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001513258	SCV001888076	benign	not provided	2020-06-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26901141)
Fulgent Genetics, Fulgent Genetics	RCV002488323	SCV002798784	likely benign	Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinemia, type I	2022-04-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001513258	SCV004164443	benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	LPL: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001513258	SCV005266046	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001832687	SCV002083223	benign	Hyperlipoproteinemia, type I	2019-10-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003966081	SCV004784954	likely benign	LPL-related disorder	2019-02-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).