ClinVar Miner

Submissions for variant NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile)

gnomAD frequency: 0.02287  dbSNP: rs1800472
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Total submissions: 4
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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 RCV000203155 SCV000257722 benign not specified 2015-07-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000203155 SCV000305413 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001522480 SCV001732035 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001522480 SCV001779644 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26597739, 29728750, 15212689, 17588962, 21777208)

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