ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4779G>A (p.Ser1593=)

gnomAD frequency: 0.00022  dbSNP: rs149912064
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000895200 SCV001039229 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000895200 SCV001748254 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing KAT6A: BP4, BP7
GeneDx RCV000895200 SCV001868778 benign not provided 2019-10-28 criteria provided, single submitter clinical testing

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