ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn)

gnomAD frequency: 0.00148  dbSNP: rs145868557
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175183 SCV000226624 likely benign not specified 2015-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000841294 SCV000983255 likely benign not provided 2020-05-21 criteria provided, single submitter clinical testing
Invitae RCV001089222 SCV001114772 benign Achondrogenesis, type IA 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001089222 SCV001275044 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000841294 SCV002050073 likely benign not provided 2021-04-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927601 SCV004743168 likely benign TRIP11-related disorder 2020-09-02 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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