ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4109AAG[5] (p.Glu1373dup)

dbSNP: rs751483850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598969 SCV000710105 likely benign not provided 2022-10-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001034428 SCV001197778 benign Genitopatellar syndrome 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530727 SCV004752980 likely benign KAT6B-related disorder 2020-01-30 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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