ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4695G>A (p.Ala1565=)

gnomAD frequency: 0.00008  dbSNP: rs368762696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000951653 SCV001820738 likely benign not provided 2020-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066285 SCV002332897 likely benign Kabuki syndrome 2021-10-22 criteria provided, single submitter clinical testing

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