ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13560G>A (p.Pro4520=)

gnomAD frequency: 0.00004  dbSNP: rs758268996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817358 SCV002065537 likely benign not specified 2017-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542525 SCV003494655 likely benign Kabuki syndrome 2023-06-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536336 SCV004716890 likely benign KMT2D-related disorder 2021-12-01 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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