ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu)

gnomAD frequency: 0.00001  dbSNP: rs1037774698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723353 SCV000854752 uncertain significance Blepharophimosis - intellectual disability syndrome, SBBYS type 2018-08-29 no assertion criteria provided clinical testing

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