ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13346T>A (p.Leu4449His)

gnomAD frequency: 0.00001  dbSNP: rs757710580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291791 SCV001480410 uncertain significance Kabuki syndrome 1 2020-05-01 criteria provided, single submitter clinical testing

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