ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.1890-5T>C (rs187666567)

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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 RCV000716372 SCV000847212 benign History of neurodevelopmental disorder 2016-07-14 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000971698 SCV001119357 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000117093 SCV000151236 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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