ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.3045G>A (p.Pro1015=)

gnomAD frequency: 0.00002  dbSNP: rs760529172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002099288 SCV002435524 likely benign Kabuki syndrome 2 2024-03-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903467 SCV004724912 likely benign KDM6A-related disorder 2020-01-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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