ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15132T>C (p.Asp5044=)

dbSNP: rs1942619118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311816 SCV001502132 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545043 SCV003011666 likely benign Kabuki syndrome 2022-05-12 criteria provided, single submitter clinical testing

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