ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.8046+12C>T

gnomAD frequency: 0.00006  dbSNP: rs184322774
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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 RCV002146799 SCV002411803 likely benign Kabuki syndrome 2023-10-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706351 SCV005213065 likely benign not provided criteria provided, single submitter not provided

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