ClinVar Miner

Submissions for variant NM_016604.4(KDM3B):c.2387G>T (p.Arg796Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV005242586 SCV005892172 uncertain significance not provided 2025-01-01 criteria provided, single submitter clinical testing KDM3B: PM2
PreventionGenetics, part of Exact Sciences RCV004754112 SCV005357163 uncertain significance KDM3B-related disorder 2024-08-22 no assertion criteria provided clinical testing The KDM3B c.2387G>T variant is predicted to result in the amino acid substitution p.Arg796Met. To our knowledge, this variant has not been reported in the literature or in a large population database, 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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