ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.3069C>T (p.Asp1023=)

gnomAD frequency: 0.00187  dbSNP: rs144383785
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194212 SCV000249190 benign not specified 2015-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315514 SCV000848395 likely benign Inborn genetic diseases 2016-12-01 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.
Invitae RCV000893698 SCV001037651 benign not provided 2024-01-02 criteria provided, single submitter clinical testing

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