ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) (rs376996387)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000394374 SCV000376853 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298264 SCV000376854 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001764275 SCV001998402 uncertain significance not provided 2019-11-21 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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