ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.4913C>T (p.Pro1638Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002750011 SCV003748787 uncertain significance Inborn genetic diseases 2022-10-04 criteria provided, single submitter clinical testing The c.4913C>T (p.P1638L) alteration is located in exon 27 (coding exon 25) of the KMT2E gene. This alteration results from a C to T substitution at nucleotide position 4913, causing the proline (P) at amino acid position 1638 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003492818 SCV004235947 uncertain significance O'Donnell-Luria-Rodan syndrome 2023-05-23 criteria provided, single submitter clinical testing

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