ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)

gnomAD frequency: 0.00433  dbSNP: rs181733689
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080128 SCV000112023 benign not specified 2012-09-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080128 SCV000193391 benign not specified 2018-09-26 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514859 SCV000610699 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000146166 SCV000781661 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001084623 SCV001013072 benign Kabuki syndrome 2024-01-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000146166 SCV001473846 benign Kabuki syndrome 1 2020-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000514859 SCV001935099 benign not provided 2020-03-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30459467)
Fulgent Genetics, Fulgent Genetics RCV000146166 SCV002799386 likely benign Kabuki syndrome 1 2022-04-13 criteria provided, single submitter clinical testing
ITMI RCV000080128 SCV000085617 not provided not specified 2013-09-19 no assertion provided reference population

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