ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.2859-5T>C

gnomAD frequency: 0.00254  dbSNP: rs747739852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878517 SCV001021435 benign Kabuki syndrome 2 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001619859 SCV001843554 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908366 SCV004726907 benign KDM6A-related condition 2019-09-24 criteria provided, single submitter 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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