ClinVar Miner

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

gnomAD frequency: 0.00103  dbSNP: rs149334552
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Total submissions: 5
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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

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