ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.321C>T (p.Ile107=)

gnomAD frequency: 0.00012  dbSNP: rs372045593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769898 SCV002004830 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002077203 SCV002364385 likely benign Achondrogenesis, type IA 2024-08-23 criteria provided, single submitter clinical testing

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