ClinVar Miner

Submissions for variant NM_016604.4(KDM3B):c.1838G>A (p.Arg613His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002749106 SCV003739521 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.1838G>A (p.R613H) alteration is located in exon 8 (coding exon 8) of the KDM3B gene. This alteration results from a G to A substitution at nucleotide position 1838, causing the arginine (R) at amino acid position 613 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003434683 SCV004161414 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing KDM3B: BP4

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