ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6576A>G (p.Ala2192=)

dbSNP: rs2120543230
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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 RCV002101483 SCV002439443 likely benign Kabuki syndrome 2021-10-28 criteria provided, single submitter clinical testing

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