ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.10130A>G (p.Asp3377Gly)

gnomAD frequency: 0.00001  dbSNP: rs782811050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002617082 SCV002953140 likely benign not provided 2025-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003357955 SCV004063955 likely benign Inborn genetic diseases 2023-09-13 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.

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