ClinVar Miner

Submissions for variant NC_000019.10:g.45478610G>C

dbSNP: rs879255589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of metabolic science RCV000239661 SCV000256109 pathogenic Thyroid hormone metabolism, abnormal 1 no assertion criteria provided clinical testing general selenoprotein deficiency
OMIM RCV003224870 SCV003840936 pathogenic Thyroid hormone metabolism, abnormal, 3 2023-01-10 no assertion criteria provided literature only

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