ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp)

gnomAD frequency: 0.00001  dbSNP: rs760279999
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514080 SCV000609712 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659801 SCV000781656 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060186 SCV002367959 likely benign Kabuki syndrome 2023-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514080 SCV002821707 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing KMT2D: BS2

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