ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=)

gnomAD frequency: 0.00031  dbSNP: rs374724784
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080188 SCV000112083 uncertain significance not provided 2013-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055155 SCV002486232 benign Kabuki syndrome 2024-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000080188 SCV004700756 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004542768 SCV004765981 likely benign KMT2D-related disorder 2021-05-04 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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