ClinVar Miner

Submissions for variant NM_005647.4(TBL1X):c.1054-41C>A

gnomAD frequency: 0.34639  dbSNP: rs2239411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001816035 SCV002062243 benign Hypothyroidism, congenital, nongoitrous, 8 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714355 SCV005279073 benign not provided criteria provided, single submitter not provided

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