ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr) (rs200729108)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998295 SCV001154283 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000998295 SCV001805336 uncertain significance not provided 2019-07-03 no assertion criteria provided clinical testing 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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