Submissions for variant NM_001375808.2(LPIN2):c.590+6A>G

gnomAD frequency: 0.00468  dbSNP: rs73375280

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000363711	SCV000408489	benign	Majeed syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000363711	SCV000766488	benign	Majeed syndrome	2025-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000363711	SCV001470737	benign	Majeed syndrome	2024-08-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001706521	SCV001836762	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263043	SCV002543590	benign	Autoinflammatory syndrome	2022-04-19	criteria provided, single submitter	clinical testing