ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile)

gnomAD frequency: 0.00033  dbSNP: rs145158232
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761730 SCV000891915 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing KAT6B: BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV001341945 SCV001535842 benign Genitopatellar syndrome 2024-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000761730 SCV001819473 likely benign not provided 2020-03-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535891 SCV004734132 likely benign KAT6B-related disorder 2022-08-10 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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