ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=)

gnomAD frequency: 0.00011  dbSNP: rs370977553
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681350 SCV000808813 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001501331 SCV001706138 likely benign Genitopatellar syndrome 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485572 SCV002802853 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-11-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000681350 SCV005228785 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004535700 SCV004749555 likely benign KAT6B-related disorder 2019-06-26 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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