ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2771C>T (p.Ser924Phe)

gnomAD frequency: 0.00001  dbSNP: rs768627183
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Total submissions: 1
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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 RCV000659706 SCV000781553 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing

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