ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16521+7G>A

gnomAD frequency: 0.00009  dbSNP: rs369084808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001452006 SCV001655651 likely benign Kabuki syndrome 2021-12-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392705 SCV004130691 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing KMT2D: BP4

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