ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.6643T>A (p.Ser2215Thr) (rs200080744)

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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,Center for Human Genetics, Inc RCV000659739 SCV000781588 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
ITMI RCV000121410 SCV000085598 not provided not specified 2013-09-19 no assertion provided reference population

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