ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1025T>C (p.Ile342Thr)

gnomAD frequency: 0.00021  dbSNP: rs182392778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001643855 SCV001856044 benign not provided 2020-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072985 SCV002396031 likely benign Genitopatellar syndrome 2024-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004741047 SCV005363528 likely benign KAT6B-related disorder 2024-04-18 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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