ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.8047-15C>T

gnomAD frequency: 0.01140  dbSNP: rs202244933
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080218 SCV000112113 benign not specified 2013-05-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080218 SCV000193478 likely benign not specified 2014-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000080218 SCV000728621 benign not specified 2017-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001517305 SCV001725783 benign Kabuki syndrome 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703224 SCV005213064 likely benign not provided criteria provided, single submitter not provided

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