ClinVar Miner

Submissions for variant NM_003301.7(TRHR):c.49C>T (p.Arg17Ter)

gnomAD frequency: 0.00003  dbSNP: rs121917847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV004577712 SCV001245369 pathogenic Hypothyroidism, congenital, nongoitrous, 7 2020-02-14 criteria provided, single submitter curation This variant is interpreted as pathogenic for Hypothyroidism, congenital, non-goitrous, 7, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PS3, PP1, PVS1-Strong.
OMIM RCV004577712 SCV000033766 pathogenic Hypothyroidism, congenital, nongoitrous, 7 2009-02-12 no assertion criteria provided literature only

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