ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.2224-10dup

dbSNP: rs58665245
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000196193 SCV000252846 benign Jeune thoracic dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000196193 SCV000441897 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000604075 SCV000728723 benign not specified 2017-10-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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