ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter)

dbSNP: rs2150855722
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814884 SCV002061779 likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2021-12-09 criteria provided, single submitter clinical testing PS2, PM2

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