ClinVar Miner

Submissions for variant NM_032588.4(TRIM63):c.135G>C (p.Arg45=)

gnomAD frequency: 0.00733  dbSNP: rs61760891
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877985 SCV001020813 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000877985 SCV001961086 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing TRIM63: BP4, BP7, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001702060 SCV004029752 benign not specified 2023-07-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000877985 SCV005264097 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702060 SCV001931845 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000877985 SCV001959268 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004756062 SCV005352430 likely benign TRIM63-related disorder 2024-03-27 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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