ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5189-14C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002917434 SCV003247434 likely benign Kabuki syndrome 2023-08-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704872 SCV005213075 likely benign not provided criteria provided, single submitter not provided

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