ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) (rs12549048)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118668 SCV000314797 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319877 SCV000472195 benign Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715407 SCV000846236 benign History of neurodevelopmental disorder 2016-03-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118668 SCV000153082 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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