Submissions for variant NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu)

gnomAD frequency: 0.00145  dbSNP: rs114300046

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001696839	SCV000535863	likely benign	not provided	2019-07-19	criteria provided, single submitter	clinical testing
Invitae	RCV000883328	SCV001026625	likely benign	Achondrogenesis, type IA	2024-01-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000883328	SCV001275352	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.
PreventionGenetics, part of Exact Sciences	RCV003925300	SCV004744146	likely benign	TRIP11-related condition	2022-11-11	criteria provided, single submitter	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).