Submissions for variant NM_001354712.2(THRB):c.735C>T (p.Phe245=)

gnomAD frequency: 0.14868  dbSNP: rs3752874

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179759	SCV000232060	benign	not specified	2014-11-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000179759	SCV000307114	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000265789	SCV000442791	benign	Thyroid hormone resistance, generalized, autosomal dominant	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Breakthrough Genomics, Breakthrough Genomics	RCV004708081	SCV005242257	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000179759	SCV001921045	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000179759	SCV001963196	benign	not specified		no assertion criteria provided	clinical testing