ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3700G>T (p.Gly1234Trp)

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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 RCV002584670 SCV003488824 benign Kabuki syndrome 2022-04-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005011010 SCV005636051 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2023-12-27 criteria provided, single submitter clinical testing

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