ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3906+20C>T

gnomAD frequency: 0.00025  dbSNP: rs375504464
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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) RCV000153418 SCV000202919 uncertain significance not provided 2013-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000153418 SCV002032660 likely benign not provided 2021-03-03 criteria provided, single submitter clinical testing
Invitae RCV002056035 SCV002401518 benign Kabuki syndrome 2023-11-17 criteria provided, single submitter clinical testing

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