ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6621G>T (p.Ala2207=)

dbSNP: rs199896881
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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 RCV002080056 SCV002321035 likely benign Kabuki syndrome 2022-06-20 criteria provided, single submitter clinical testing

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