ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3983G>A (p.Arg1328Gln)

gnomAD frequency: 0.00003  dbSNP: rs375635160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001905790 SCV002154885 benign Kabuki syndrome 2025-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006158 SCV005636037 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-01-03 criteria provided, single submitter clinical testing

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