ClinVar Miner

Submissions for variant NM_001375524.1(TRRAP):c.2601G>A (p.Pro867=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002908758 SCV003253436 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002908758 SCV004698431 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing TRRAP: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV004548395 SCV004766308 benign TRRAP-related disorder 2024-02-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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