ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=)

gnomAD frequency: 0.00038  dbSNP: rs145607512
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265509 SCV000472177 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502241 SCV000597548 likely benign not specified 2016-12-16 criteria provided, single submitter clinical testing
Invitae RCV000917666 SCV001062955 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323562 SCV002606375 likely benign Inborn genetic diseases 2017-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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