ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val)

gnomAD frequency: 0.00002  dbSNP: rs1239905273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659765 SCV000781616 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000659765 SCV002796326 uncertain significance Kabuki syndrome 1 2022-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003753148 SCV004532694 benign Kabuki syndrome 2023-01-24 criteria provided, single submitter clinical testing

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