ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=)

gnomAD frequency: 0.00024  dbSNP: rs371945178
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001465729 SCV001669721 likely benign Genitopatellar syndrome 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001707633 SCV001936252 benign not provided 2020-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502199 SCV002805739 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-11-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707633 SCV005228783 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004739674 SCV005353130 likely benign KAT6B-related disorder 2024-04-25 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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