ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5646del (p.Asn1883fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV003397193 SCV004102700 pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type 2023-11-10 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004698882 SCV005200920 pathogenic KAT6B-related disorder 2024-04-09 criteria provided, single submitter clinical testing PVS1, PS2, PS4_Supporting, PM2

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