ClinVar Miner

Submissions for variant NM_020451.2(SELENON):c.-42T>C

gnomAD frequency: 0.99972  dbSNP: rs12121707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249922 SCV000313541 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377725 SCV000357093 uncertain significance SEPN1-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683095 SCV001902418 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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