ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.2066T>G (p.Val689Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005009341 SCV005635619 likely pathogenic Familial gestational hyperthyroidism; Familial hyperthyroidism due to mutations in TSH receptor; Hypothyroidism due to TSH receptor mutations 2024-06-17 criteria provided, single submitter clinical testing

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