ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.4326T>C (p.His1442=)

gnomAD frequency: 0.00093  dbSNP: rs141961986
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887434 SCV001030990 benign not provided 2025-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000887434 SCV001838076 benign not provided 2019-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507571 SCV002810245 likely benign Wiedemann-Steiner syndrome 2021-09-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000887434 SCV005331056 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing KMT2A: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV003955929 SCV004776208 likely benign KMT2A-related disorder 2020-02-18 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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