ClinVar Miner

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

dbSNP: rs58665245
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000200115 SCV000252845 benign Jeune thoracic dystrophy 2025-02-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000200115 SCV000441898 likely benign Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001706181 SCV001905351 benign not provided 2021-05-04 criteria provided, single submitter clinical testing

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