ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4584-6C>G

gnomAD frequency: 0.00001  dbSNP: rs1253181450
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953225 SCV002227136 likely benign Kabuki syndrome 2022-06-21 criteria provided, single submitter clinical testing

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