ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3581del (p.Gln1194fs)

dbSNP: rs1564628365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680015 SCV000807454 pathogenic Genitopatellar syndrome 2017-09-01 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a newborn male with oligohydramnios, dysmorphic features, postaxial polydactyly, broad first toes, hypoplsia of toenailes, knee/elbow contractures, absent scrotum, abnormal anus, bilateral dysplastic cystic kidneys, enlarged cerebral ventricles, agenesis of corpus callosum
Daryl Scott Lab, Baylor College of Medicine RCV002245583 SCV002515337 pathogenic KAT6B-realted disoder 2022-02-01 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV005223119 SCV005871043 pathogenic KAT6B-related disorder 2024-01-01 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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