ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr)

gnomAD frequency: 0.00006  dbSNP: rs200747934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988830 SCV001138716 uncertain significance Kabuki syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001510488 SCV001717532 benign Kabuki syndrome 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003906122 SCV004726467 likely benign KMT2D-related condition 2024-01-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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