ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.839G>A (p.Arg280Lys)

gnomAD frequency: 0.00009  dbSNP: rs148243411
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000433790 SCV000511086 uncertain significance not provided 2016-12-02 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058877 SCV002342241 benign Genitopatellar syndrome 2024-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022267 SCV004891137 likely benign Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004739718 SCV005352695 likely benign KAT6B-related disorder 2024-05-23 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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