ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.14022A>T (p.Ile4674=)

gnomAD frequency: 0.00238  dbSNP: rs143292008
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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 RCV001518593 SCV001727322 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001518593 SCV004156994 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing KMT2C: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV001518593 SCV005273440 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004533939 SCV004753836 likely benign KMT2C-related disorder 2024-02-26 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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