ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile) (rs35578974)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000311757 SCV000472169 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717143 SCV000847990 likely benign History of neurodevelopmental disorder 2019-07-26 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000947138 SCV001093309 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118663 SCV000153077 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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