ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.4329A>G (p.Leu1443=)

gnomAD frequency: 0.00035  dbSNP: rs547759535
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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 RCV000152134 SCV000200829 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing Leu1443Leu in exon 9 of TRIOBP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
GeneDx RCV000838005 SCV000979869 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000838005 SCV002376501 benign not provided 2023-11-18 criteria provided, single submitter clinical testing

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