ClinVar Miner

Submissions for variant NM_017635.5(KMT5B):c.2597_2598del (p.Ser866fs)

dbSNP: rs888239971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268152 SCV001446843 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268152 SCV002520139 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation as the last 20 amino acids are replaced with 3 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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