ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met)

gnomAD frequency: 0.00004  dbSNP: rs35087111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146148 SCV000193368 uncertain significance Kabuki syndrome 1 2013-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857511 SCV002174464 benign Kabuki syndrome 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008051 SCV005636415 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-04-13 criteria provided, single submitter clinical testing

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