ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5084-7C>T

gnomAD frequency: 0.00002  dbSNP: rs1175678091
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001538903 SCV001756619 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071943 SCV002353935 likely benign Kabuki syndrome 2023-10-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541986 SCV004800005 likely benign KMT2D-related disorder 2022-10-31 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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