ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.6130G>A (p.Ala2044Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003180707 SCV003887122 likely benign Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003730451 SCV004538328 benign not provided 2023-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003730451 SCV005092903 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing KMT2B: PM2, BP4

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