ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe)

gnomAD frequency: 0.00001  dbSNP: rs771209224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837294 SCV002097819 uncertain significance Kabuki syndrome 1 2021-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869844 SCV002166935 benign Kabuki syndrome 2024-07-26 criteria provided, single submitter clinical testing

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