ClinVar Miner

Submissions for variant NM_005647.4(TBL1X):c.892-24G>T

gnomAD frequency: 0.46891  dbSNP: rs3747430
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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 RCV001816034 SCV002062242 benign Hypothyroidism, congenital, nongoitrous, 8 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714354 SCV005279072 benign not provided criteria provided, single submitter not provided

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