ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.11614G>A (p.Glu3872Lys)

gnomAD frequency: 0.00019  dbSNP: rs201674711
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002514645 SCV003520296 benign not provided 2024-04-29 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005394422 SCV006052893 benign Kleefstra syndrome 2 2023-04-17 criteria provided, single submitter research
ITMI RCV000121519 SCV000085713 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004542898 SCV004768374 benign KMT2C-related disorder 2019-02-20 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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