ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu)

gnomAD frequency: 0.00002  dbSNP: rs377321963
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500949 SCV001705752 likely benign Genitopatellar syndrome 2023-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495764 SCV002797175 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2022-02-15 criteria provided, single submitter clinical testing

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