ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.13A>C (p.Ile5Leu)

gnomAD frequency: 0.00001  dbSNP: rs184680258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512673 SCV001720127 benign Jeune thoracic dystrophy 2023-11-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276752 SCV002566851 uncertain significance Connective tissue disorder 2020-05-01 criteria provided, single submitter clinical testing

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