ClinVar Miner

Submissions for variant NM_001363711.2(DUOX2):c.3367G>A (p.Ala1123Thr)

dbSNP: rs113632824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960794 SCV001107812 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001117842 SCV001276072 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences RCV004751839 SCV005350865 likely benign DUOX2-related disorder 2024-09-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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