ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) (rs41298498)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716123 SCV000846958 benign History of neurodevelopmental disorder 2014-11-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000712137 SCV000842560 benign not provided 2017-09-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117390 SCV000151574 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.
Invitae RCV000527641 SCV000653815 benign Mental retardation, X-linked 98 2017-08-10 criteria provided, single submitter clinical testing

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