ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5189-13G>A

dbSNP: rs375365635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659728 SCV000781576 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001479722 SCV001684028 likely benign Kabuki syndrome 2023-10-05 criteria provided, single submitter clinical testing

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