ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.5957G>A (p.Arg1986Gln)

gnomAD frequency: 0.00024  dbSNP: rs138373177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001897422 SCV002149179 benign not provided 2023-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553443 SCV003558281 likely benign Inborn genetic diseases 2021-07-09 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.
Revvity Omics, Revvity RCV003134188 SCV003812589 uncertain significance Kleefstra syndrome 2 2021-05-17 criteria provided, single submitter clinical testing

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