ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14643+15G>C

gnomAD frequency: 0.00001  dbSNP: rs959216990
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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 RCV002185677 SCV002483408 likely benign Kabuki syndrome 2021-06-05 criteria provided, single submitter clinical testing

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