ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1468C>T (p.Pro490Ser)

gnomAD frequency: 0.00046  dbSNP: rs141930257
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001671670 SCV001889803 benign not provided 2019-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073147 SCV002414528 likely benign Genitopatellar syndrome 2023-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001671670 SCV004126807 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing KAT6B: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV004536246 SCV004726306 likely benign KAT6B-related disorder 2021-08-23 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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