ClinVar Miner

Submissions for variant NM_003235.5(TG):c.2134dup (p.Ala712fs)

dbSNP: rs1815591671
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Polak associated Lab, IMAGINE Institute RCV001270321 SCV001450544 likely pathogenic Congenital hypothyroidism no assertion criteria provided clinical testing

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