ClinVar Miner

Submissions for variant NM_017635.5(KMT5B):c.1843C>A (p.Arg615=)

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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 RCV003222730 SCV003916743 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing KMT5B: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV004548499 SCV004748832 benign KMT5B-related disorder 2021-01-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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