ClinVar Miner

Submissions for variant NM_032188.3(KAT8):c.524A>C (p.Lys175Thr)

dbSNP: rs2143985614
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001800236 SCV002044397 likely pathogenic Li-Ghorbani-Weisz-Hubshman syndrome 2022-04-26 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_SUP, PM2_SUP, PM5_SUP, PP2, PP3

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