ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.3954C>T (p.Ser1318=)

gnomAD frequency: 0.00157  dbSNP: rs200990219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608392 SCV000711773 likely benign not specified 2016-04-08 criteria provided, single submitter clinical testing p.Ser1318Ser in exon 8 of TRIOBP: This variant is not expected to have clinical significance because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and it has been identified in 0.6% (10/160 8) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs200990219).
GeneDx RCV000904392 SCV000725485 likely benign not provided 2021-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000904392 SCV001048906 benign not provided 2023-12-21 criteria provided, single submitter clinical testing

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