ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)

gnomAD frequency: 0.00041  dbSNP: rs140757802
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253498 SCV000314412 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001589274 SCV001824593 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing Identified in individual with asphyxiating thoracic dystrophy; however, additional variants in other genes were also identified (Zhang et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29068549)
Invitae RCV001854967 SCV002187230 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-01-26 criteria provided, single submitter clinical testing
Dan Cohn Lab, University Of California Los Angeles RCV000516123 SCV000612125 uncertain significance Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516123 SCV001479704 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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