ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9547G>C (p.Ala3183Pro)

gnomAD frequency: 0.00051  dbSNP: rs200429063
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001437656 SCV001640516 likely benign Kabuki syndrome 2025-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000951373 SCV001985119 benign not provided 2021-10-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818971 SCV002066875 likely benign not specified 2021-02-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543571 SCV004789004 likely benign KMT2D-related disorder 2022-12-27 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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