ClinVar Miner

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

gnomAD frequency: 0.00145  dbSNP: rs114300046
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Total submissions: 4
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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 disorder 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).

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