ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2992C>T (p.Pro998Ser)

dbSNP: rs143711798
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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 RCV000659708 SCV000781555 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003753147 SCV004558985 benign Kabuki syndrome 2023-07-24 criteria provided, single submitter clinical testing

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