ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14202C>T (p.Asp4734=)

gnomAD frequency: 0.00029  dbSNP: rs200979074
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000405043 SCV001021768 benign Kabuki syndrome 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001795928 SCV004130703 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing KMT2D: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001795928 SCV002034239 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795928 SCV002038138 likely benign not provided no assertion criteria provided clinical testing

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