ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1149G>A (p.Ser383=)

gnomAD frequency: 0.00091  dbSNP: rs140345462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314103 SCV000848501 likely benign Inborn genetic diseases 2016-12-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000359115 SCV001097559 benign Kleefstra syndrome 1 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001706612 SCV001896546 benign not provided 2018-11-05 criteria provided, single submitter clinical testing

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