ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg)

gnomAD frequency: 0.00019  dbSNP: rs769903041
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551300 SCV001771778 likely benign not provided 2021-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850591 SCV002292315 likely benign Genitopatellar syndrome 2024-12-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001551300 SCV003813949 uncertain significance not provided 2022-03-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001551300 SCV004126808 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing KAT6B: BS1
PreventionGenetics, part of Exact Sciences RCV004537696 SCV004736320 likely benign KAT6B-related disorder 2022-06-17 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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