ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.347C>T (p.Thr116Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004727972 SCV005338254 uncertain significance KMT2E-related disorder 2024-06-14 no assertion criteria provided clinical testing The KMT2E c.347C>T variant is predicted to result in the amino acid substitution p.Thr116Ile. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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