ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.444T>C (p.Pro148=)

gnomAD frequency: 0.23632  dbSNP: rs3812497
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082239 SCV000114188 benign not specified 2014-05-23 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000082239 SCV000314446 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002311536 SCV000845888 benign Inborn genetic diseases 2016-03-11 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001510476 SCV001717519 benign Kleefstra syndrome 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001618240 SCV001845189 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510476 SCV001875971 benign Kleefstra syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082239 SCV000151081 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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