ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=)

gnomAD frequency: 0.00202  dbSNP: rs144780536
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001078472 SCV000389561 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Eurofins Ntd Llc (ga) RCV000597547 SCV000708521 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000756810 SCV000713953 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756810 SCV000884727 benign not provided 2018-04-20 criteria provided, single submitter clinical testing
Invitae RCV001078472 SCV001100759 benign Achondrogenesis, type IA 2024-01-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278405 SCV002567073 likely benign Connective tissue disorder 2021-03-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000756810 SCV004130278 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TRIP11: BP4, BP7, BS2

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