ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15285C>T (p.Cys5095=)

gnomAD frequency: 0.00005  dbSNP: rs747841279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002093287 SCV002376640 likely benign Kabuki syndrome 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004572039 SCV005051314 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV004543767 SCV004786097 likely benign KMT2D-related disorder 2022-06-06 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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