ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.10931C>T (p.Pro3644Leu)

dbSNP: rs2129103910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706759 SCV001934232 uncertain significance Kleefstra syndrome 2 2020-10-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003886523 SCV004703137 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing KMT2C: PM2

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