ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp)

gnomAD frequency: 0.00001  dbSNP: rs121908871
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002490330 SCV002800578 likely pathogenic Familial gestational hyperthyroidism; Familial hyperthyroidism due to mutations in TSH receptor; Hypothyroidism due to TSH receptor mutations 2021-07-28 criteria provided, single submitter clinical testing
OMIM RCV000006814 SCV000027010 pathogenic Hypothyroidism due to TSH receptor mutations 1997-10-01 no assertion criteria provided literature only

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