ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.692+163A>G

gnomAD frequency: 0.63598  dbSNP: rs3783942
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001713681 SCV001938918 benign not provided 2019-05-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840831 SCV002102084 benign Familial gestational hyperthyroidism 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840829 SCV002102095 benign Familial hyperthyroidism due to mutations in TSH receptor 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840830 SCV002102106 benign Hypothyroidism due to TSH receptor mutations 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713681 SCV005295227 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001698749 SCV001917036 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001698749 SCV001963280 benign not specified no assertion criteria provided clinical testing

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