Submissions for variant NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=)

gnomAD frequency: 0.00103  dbSNP: rs149334552

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000842240	SCV000984245	likely benign	not provided	2020-11-09	criteria provided, single submitter	clinical testing
Invitae	RCV001087116	SCV001059555	benign	Achondrogenesis, type IA	2023-12-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001087116	SCV001278971	likely benign	Achondrogenesis, type IA	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279560	SCV002567077	likely benign	Connective tissue disorder	2022-02-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000842240	SCV004563366	likely benign	not provided	2023-02-10	criteria provided, single submitter	clinical testing