ClinVar Miner

Submissions for variant NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=)

gnomAD frequency: 0.29345  dbSNP: rs3747282
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082027 SCV000113962 benign not specified 2015-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807031 SCV002055216 benign X-linked intellectual disability, Stocco dos Santos type 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000082027 SCV002618436 benign not specified 2014-11-24 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV004713258 SCV005277847 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000082027 SCV000152746 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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