ClinVar Miner

Submissions for variant NM_016292.3(TRAP1):c.757A>G (p.Ile253Val)

gnomAD frequency: 0.00536  dbSNP: rs113476582
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000676245 SCV001101405 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676245 SCV001150781 benign not provided 2023-11-01 criteria provided, single submitter clinical testing TRAP1: BS1, BS2
GeneDx RCV000676245 SCV002504101 likely benign not provided 2020-07-15 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003980299 SCV004794079 likely benign TRAP1-related condition 2019-05-20 criteria provided, single submitter 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000676245 SCV000801999 likely benign not provided 2016-02-25 no assertion criteria provided clinical testing

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