ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6987C>T (p.Ala2329=)

gnomAD frequency: 0.00002  dbSNP: rs772399253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002203330 SCV002488196 likely benign Kabuki syndrome 2022-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533960 SCV004716624 likely benign KMT2D-related disorder 2022-12-06 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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