Submissions for variant NM_001375808.2(LPIN2):c.1169-7del

dbSNP: rs746626720

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000278223	SCV000408482	uncertain significance	Majeed syndrome	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000278223	SCV000604110	likely benign	Majeed syndrome	2023-11-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000278223	SCV000743506	likely benign	Majeed syndrome	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000278223	SCV000744777	benign	Majeed syndrome	2017-11-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000829002	SCV000970712	likely benign	not provided	2018-06-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000278223	SCV001014565	benign	Majeed syndrome	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000829002	SCV001151451	likely benign	not provided	2018-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263041	SCV002543522	benign	Autoinflammatory syndrome	2021-03-19	criteria provided, single submitter	clinical testing