ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs)

dbSNP: rs1589832003
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850565 SCV000992780 pathogenic Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2017-12-31 criteria provided, single submitter clinical testing

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