Submissions for variant NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg)

gnomAD frequency: 0.00146  dbSNP: rs2467827

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001121591	SCV001280223	uncertain significance	Thyroid dyshormonogenesis 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mendelics	RCV002249732	SCV002516995	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001700700	SCV005193778	uncertain significance	not provided		criteria provided, single submitter	not provided
Polak associated Lab, IMAGINE Institute	RCV001270330	SCV001450553	pathogenic	Congenital hypothyroidism		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700700	SCV001917585	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700700	SCV001965808	likely benign	not provided		no assertion criteria provided	clinical testing