ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.6835C>A (p.Pro2279Thr)

gnomAD frequency: 0.00002  dbSNP: rs775809939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754212 SCV001987226 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002488504 SCV002785749 uncertain significance Kleefstra syndrome 2 2022-02-04 criteria provided, single submitter clinical testing

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