ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3544T>C (p.Cys1182Arg)

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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 RCV002610885 SCV003499509 benign Kabuki syndrome 2024-06-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005011037 SCV005636056 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-05-20 criteria provided, single submitter clinical testing

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