ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.1755A>C (p.Ile585=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002635588 SCV002973021 benign Jeune thoracic dystrophy 2022-11-22 criteria provided, single submitter clinical testing

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