ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.692+48T>A

dbSNP: rs28516678
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001840959 SCV002101706 benign Familial gestational hyperthyroidism 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840957 SCV002101717 benign Familial hyperthyroidism due to mutations in TSH receptor 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840958 SCV002101729 benign Hypothyroidism due to TSH receptor mutations 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706258 SCV005217813 likely benign not provided criteria provided, single submitter not provided

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