ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133673 SCV003813242 uncertain significance Cranioectodermal dysplasia 1 2021-05-19 criteria provided, single submitter clinical testing

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