ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5645-3C>T

gnomAD frequency: 0.00007  dbSNP: rs544332856
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659732 SCV000781580 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001459987 SCV001663846 likely benign Kabuki syndrome 2021-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000911213 SCV001988357 benign not provided 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000911213 SCV004130789 benign not provided 2022-08-01 criteria provided, single submitter clinical testing KMT2D: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004544919 SCV004787389 likely benign KMT2D-related disorder 2019-08-08 criteria provided, single submitter 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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