ClinVar Miner

Submissions for variant NM_203395.3(IYD):c.687+1305T>C

gnomAD frequency: 0.91223  dbSNP: rs612421
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247724 SCV000306914 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001610608 SCV001839069 benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000613257 SCV000734487 benign Iodotyrosine deiodination defect no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000247724 SCV001921570 benign not specified no assertion criteria provided clinical testing

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