ClinVar Miner

Submissions for variant NM_001011658.4(TRAPPC2):c.*263dup

dbSNP: rs1057515794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000332587 SCV000481873 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001597129 SCV001830433 benign not provided 2019-10-05 criteria provided, single submitter clinical testing

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