ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15120C>T (p.Asp5040=)

gnomAD frequency: 0.00005  dbSNP: rs143955226
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000372372 SCV001092266 likely benign Kabuki syndrome 2023-10-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820910 SCV002069446 likely benign not specified 2018-08-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703637 SCV005213048 likely benign not provided criteria provided, single submitter not provided

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