ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1815C>G (p.Ser605Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004528773 SCV004112139 uncertain significance KAT6B-related disorder 2023-04-28 criteria provided, single submitter clinical testing The KAT6B c.1815C>G variant is predicted to result in the amino acid substitution p.Ser605Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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