ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp)

gnomAD frequency: 0.00051  dbSNP: rs201114196
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177546 SCV000229431 uncertain significance not provided 2015-03-09 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659750 SCV000781599 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000358195 SCV001018713 likely benign Kabuki syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000177546 SCV001867072 benign not provided 2019-04-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31624253)
PreventionGenetics, part of Exact Sciences RCV004539652 SCV004767739 likely benign KMT2D-related disorder 2022-04-26 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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