ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.1471G>A (p.Gly491Ser)

gnomAD frequency: 0.00555  dbSNP: rs185072239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545054 SCV001764308 likely benign not provided 2020-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001545054 SCV002331361 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550316 SCV004783099 benign KMT2B-related disorder 2019-04-05 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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