ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6135C>T (p.Pro2045=)

gnomAD frequency: 0.00524  dbSNP: rs11546529
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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 RCV000036831 SCV000060486 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Pro2045Pro in Exon 16 of TRIOBP: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.5% (57/3692) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs11546529).
GeneDx RCV000969750 SCV000727789 benign not provided 2020-06-11 criteria provided, single submitter clinical testing
Invitae RCV000969750 SCV001117281 benign not provided 2024-01-16 criteria provided, single submitter clinical testing

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