ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3957G>T (p.Leu1319Phe)

gnomAD frequency: 0.00006  dbSNP: rs150339818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001670486 SCV001891586 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073179 SCV002436140 likely benign Genitopatellar syndrome 2024-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536248 SCV004727125 likely benign KAT6B-related disorder 2022-03-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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