ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.1599-9C>T

gnomAD frequency: 0.00424  dbSNP: rs74337152
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949739 SCV001096005 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000949739 SCV001912160 benign not provided 2019-04-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488030 SCV002800506 likely benign Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2022-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949739 SCV003917598 benign not provided 2024-08-01 criteria provided, single submitter clinical testing KAT6A: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000949739 SCV005265414 benign not provided criteria provided, single submitter not provided

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