ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.11391T>C (p.Asn3797=)

gnomAD frequency: 0.00028  dbSNP: rs2276058
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000907359 SCV001052058 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000907359 SCV001771469 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977939 SCV004794446 benign KMT2A-related disorder 2019-03-21 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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