ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6699C>T (p.Thr2233=)

gnomAD frequency: 0.00001  dbSNP: rs398123754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080204 SCV000112099 uncertain significance not provided 2012-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055156 SCV002416342 likely benign Kabuki syndrome 2021-02-15 criteria provided, single submitter clinical testing

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