ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.692+209C>A

gnomAD frequency: 0.62312  dbSNP: rs3783941
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001610431 SCV001839859 benign not provided 2019-05-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839920 SCV002102117 benign Familial gestational hyperthyroidism 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839918 SCV002102128 benign Familial hyperthyroidism due to mutations in TSH receptor 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839919 SCV002102139 benign Hypothyroidism due to TSH receptor mutations 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610431 SCV005295228 benign not provided criteria provided, single submitter not provided
ITMI RCV000122257 SCV000086481 not provided not specified 2013-09-19 no assertion provided reference population
Clinical Genetics, Academic Medical Center RCV000122257 SCV001919928 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000122257 SCV001963030 benign not specified no assertion criteria provided clinical testing

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