ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.8819C>T (p.Pro2940Leu)

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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 RCV002778888 SCV003587081 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.8819C>T (p.P2940L) alteration is located in exon 38 (coding exon 38) of the KMT2C gene. This alteration results from a C to T substitution at nucleotide position 8819, causing the proline (P) at amino acid position 2940 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003130876 SCV003810113 uncertain significance Kleefstra syndrome 2 2021-06-22 criteria provided, single submitter clinical testing

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