ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.400+17G>T

gnomAD frequency: 0.00001  dbSNP: rs781143750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586503 SCV001813014 likely benign not provided 2020-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570838 SCV003253304 likely benign Kabuki syndrome 2023-08-19 criteria provided, single submitter clinical testing

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