ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3859GAG[2] (p.Glu1289del)

dbSNP: rs747034971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000439426 SCV000511310 likely benign not provided 2017-02-06 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000439426 SCV001247731 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000439426 SCV001826317 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing
Invitae RCV000439426 SCV003520369 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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