ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.6437C>T (p.Pro2146Leu) (rs563981206)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000659735 SCV000781583 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298900 SCV000379250 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing

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