ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.1358T>C (p.Met453Thr)

dbSNP: rs121908864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV000006806 SCV002761611 likely pathogenic Familial hyperthyroidism due to mutations in TSH receptor 2020-06-05 criteria provided, single submitter clinical testing
OMIM RCV000006806 SCV000027002 pathogenic Familial hyperthyroidism due to mutations in TSH receptor 2018-09-26 no assertion criteria provided literature only

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