ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.3834T>C (p.His1278=)

gnomAD frequency: 0.00426  dbSNP: rs138989066
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176584 SCV000228261 benign not specified 2014-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515539 SCV001723630 benign Kabuki syndrome 2 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000873187 SCV001839098 benign not provided 2019-11-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000176584 SCV002065035 benign not specified 2018-08-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000873187 SCV005209301 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003891725 SCV000313750 benign KDM6A-related disorder 2022-12-08 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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