ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=)

gnomAD frequency: 0.00026  dbSNP: rs148364222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001733446 SCV001983839 benign not provided 2021-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073988 SCV002333406 benign Genitopatellar syndrome 2023-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496064 SCV002794731 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-12-27 criteria provided, single submitter clinical testing

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