ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6235-32C>A

gnomAD frequency: 0.00001  dbSNP: rs371302554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000481 SCV001157363 benign Kabuki syndrome 1 2018-08-23 criteria provided, single submitter clinical testing

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