ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.2004T>G (p.Ser668=)

gnomAD frequency: 0.00001  dbSNP: rs147102502
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416082 SCV000493337 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing KMT2A: BP4, BP7
Invitae RCV000416082 SCV002411107 benign not provided 2024-01-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957890 SCV004773943 likely benign KMT2A-related disorder 2019-07-17 criteria provided, single submitter 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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