ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3717C>T (p.Pro1239=)

dbSNP: rs147746065
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612542 SCV000714986 benign not specified 2017-07-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001518940 SCV001727720 benign Genitopatellar syndrome 2025-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003417976 SCV004126819 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing KAT6B: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV004537697 SCV004745949 benign KAT6B-related disorder 2019-05-21 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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