ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val)

gnomAD frequency: 0.00007  dbSNP: rs369068910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577248 SCV001804596 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495923 SCV002802911 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2022-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570811 SCV002975653 benign Genitopatellar syndrome 2023-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002569090 SCV003741095 likely benign Inborn genetic diseases 2021-11-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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