ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala)

gnomAD frequency: 0.00007  dbSNP: rs35111108
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146231 SCV000193472 uncertain significance Kabuki syndrome 1 2013-03-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000516606 SCV000613945 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001501756 SCV001706573 likely benign Kabuki syndrome 2024-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001657838 SCV001873762 uncertain significance not provided 2021-01-22 criteria provided, single submitter clinical testing Reported in the heterozygous state in a male patient with sagittal craniosynostosis (Clarke et al., 2018); Reported in the heterozygous state in a patient with Kabuki syndrome however, further clinical information and information about parental testing were not provided (Faundes et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30459467, 29168297)
Fulgent Genetics, Fulgent Genetics RCV005008054 SCV005635928 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-03-07 criteria provided, single submitter clinical testing

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