ClinVar Miner

Submissions for variant NM_016292.3(TRAP1):c.1406G>A (p.Arg469His)

gnomAD frequency: 0.00740  dbSNP: rs144787542
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000676236 SCV001150780 benign not provided 2024-06-01 criteria provided, single submitter clinical testing TRAP1: BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000676236 SCV002442477 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676236 SCV000801990 uncertain significance not provided 2016-02-19 no assertion criteria provided clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849425 SCV002106499 pathogenic Congenital anomaly of kidney and urinary tract 2018-08-24 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003938025 SCV004752528 likely benign TRAP1-related disorder 2021-01-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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