ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.525A>T (p.Pro175=)

gnomAD frequency: 0.00019  dbSNP: rs138790341
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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 RCV002312803 SCV000847305 likely benign Inborn genetic diseases 2016-07-26 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 RCV000953978 SCV001100579 likely benign Kleefstra syndrome 1 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001731906 SCV001982805 likely benign not provided 2021-01-13 criteria provided, single submitter clinical testing

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