ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4441C>G (p.Leu1481Val)

gnomAD frequency: 0.00007  dbSNP: rs567260713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001538180 SCV001755793 benign not provided 2020-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071937 SCV002426245 benign Genitopatellar syndrome 2025-01-18 criteria provided, single submitter clinical testing

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