ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.1303C>G (p.Pro435Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133902 SCV003810091 likely benign not provided 2023-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003274332 SCV004008917 likely benign Inborn genetic diseases 2023-03-23 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 RCV003133902 SCV004512904 benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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