ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly)

gnomAD frequency: 0.00004  dbSNP: rs752976776
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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 RCV000659823 SCV000781685 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066964 SCV002378303 likely benign Kabuki syndrome 2024-10-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010645 SCV005636760 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-06-12 criteria provided, single submitter clinical testing

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