ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1488G>A (p.Pro496=)

gnomAD frequency: 0.00004  dbSNP: rs534236560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153422 SCV000202923 uncertain significance not provided 2014-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514956 SCV003242171 benign Kabuki syndrome 2024-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544396 SCV004779402 likely benign KMT2D-related disorder 2023-10-09 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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