ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.6162C>T (p.His2054=)

gnomAD frequency: 0.00030  dbSNP: rs192237531
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250334 SCV000311921 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516906 SCV001725278 benign Genitopatellar syndrome 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001683066 SCV001901063 benign not provided 2020-02-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479968 SCV002803352 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-10-14 criteria provided, single submitter clinical testing

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