ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.3232C>T (p.Arg1078Cys)

gnomAD frequency: 0.00309  dbSNP: rs200359708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239147 SCV000296982 benign not specified 2015-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001722278 SCV000714965 benign not provided 2019-03-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27068579, 30872186)
Invitae RCV001722278 SCV002406943 benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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