ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.1966G>A (p.Val656Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003444185 SCV004171253 likely pathogenic Familial hyperthyroidism due to mutations in TSH receptor 2023-11-30 criteria provided, single submitter clinical testing

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