ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)

gnomAD frequency: 0.42485  dbSNP: rs3818717
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082273 SCV000114222 benign not specified 2014-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082273 SCV000314720 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000576404 SCV000677444 benign Smith-Magenis syndrome 2017-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311725 SCV000846177 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: 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.
GeneDx RCV001719847 SCV001949409 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000576404 SCV002033430 benign Smith-Magenis syndrome 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001719847 SCV002325633 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082273 SCV000152457 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082273 SCV001744145 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000082273 SCV001958593 benign not specified no assertion criteria provided clinical testing

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