ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu)

gnomAD frequency: 0.00006  dbSNP: rs376787713
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534589 SCV000636572 benign Kleefstra syndrome 1 2024-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000534589 SCV000895980 uncertain significance Kleefstra syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395355 SCV002701366 likely benign Inborn genetic diseases 2017-08-30 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 RCV000534589 SCV003831849 uncertain significance Kleefstra syndrome 1 2019-11-25 criteria provided, single submitter clinical testing

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