ClinVar Miner

Submissions for variant NM_001363711.2(DUOX2):c.1461_1462delinsA (p.Leu489fs)

dbSNP: rs2141153740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002275509 SCV002563245 likely pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008510 SCV005630742 likely pathogenic Thyroid dyshormonogenesis 6 2024-02-18 criteria provided, single submitter clinical testing

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