ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5073A>G (p.Pro1691=)

gnomAD frequency: 0.00001  dbSNP: rs768138617
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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 RCV002205477 SCV002369723 likely benign Kabuki syndrome 2022-08-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531317 SCV004723056 likely benign KMT2D-related disorder 2019-06-18 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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