ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val)

gnomAD frequency: 0.00001  dbSNP: rs1299043216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332272 SCV001524532 uncertain significance Kabuki syndrome 1 2019-08-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546543 SCV003245490 benign Kabuki syndrome 2022-06-02 criteria provided, single submitter clinical testing

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