ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14891G>A (p.Arg4964His)

gnomAD frequency: 0.00001  dbSNP: rs777093715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925097 SCV002176982 benign Kabuki syndrome 2024-10-26 criteria provided, single submitter clinical testing
GeneDx RCV004779181 SCV005391685 uncertain significance not provided 2024-11-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously reported as pathogenic or benign in association with neurodevelopmental disorders to our knowledge; This variant is associated with the following publications: (PMID: 29445290)
Fulgent Genetics, Fulgent Genetics RCV005006196 SCV005636771 benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-06-17 criteria provided, single submitter clinical testing

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