ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7136C>T (p.Ala2379Val)

gnomAD frequency: 0.00005  dbSNP: rs200842315
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Total submissions: 3
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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 RCV000659747 SCV000781596 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002066963 SCV002421941 likely benign Kabuki syndrome 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530553 SCV003736300 likely benign Inborn genetic diseases 2022-01-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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