ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=)

gnomAD frequency: 0.00001  dbSNP: rs975080118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728092 SCV000855625 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060966 SCV002419276 likely benign Kabuki syndrome 2024-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540034 SCV004777488 likely benign KMT2D-related disorder 2022-03-14 no assertion criteria provided 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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