ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr)

gnomAD frequency: 0.00015  dbSNP: rs201089405
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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) RCV000153423 SCV000202924 uncertain significance not provided 2013-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001405909 SCV001607853 likely benign Kabuki syndrome 2025-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544397 SCV004789467 likely benign KMT2D-related disorder 2022-09-28 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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