ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3249GGA[1] (p.Glu1089del)

dbSNP: rs555280405
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719057 SCV000728077 benign not provided 2019-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001392161 SCV001593799 likely benign Genitopatellar syndrome 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001719057 SCV005910690 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing KAT6B: BS1

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