Submissions for variant NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=)

gnomAD frequency: 0.00729  dbSNP: rs17127842

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000756812	SCV000728867	benign	not provided	2019-03-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756812	SCV000884729	benign	not provided	2023-09-22	criteria provided, single submitter	clinical testing
Invitae	RCV001089383	SCV001093776	benign	Achondrogenesis, type IA	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001089383	SCV001279082	benign	Achondrogenesis, type IA	2018-01-13	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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279434	SCV002567064	likely benign	Connective tissue disorder	2019-06-01	criteria provided, single submitter	clinical testing