ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.8799A>C (p.Lys2933Asn)

gnomAD frequency: 0.00001  dbSNP: rs766599883
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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 RCV002018196 SCV002306385 benign Kabuki syndrome 2024-05-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232777 SCV005879313 uncertain significance not provided 2024-08-09 criteria provided, single submitter clinical testing The KMT2D c.8799A>C; p.Lys2933Asn variant (rs766599883), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1512596). This variant is found in the general population with an overall allele frequency of 0.0021% (6/279934 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.283). Due to limited information, the clinical significance of this variant is uncertain at this time.

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