ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.550-18T>C

gnomAD frequency: 0.00128  dbSNP: rs150600821
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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 RCV001515523 SCV001723610 benign Jeune thoracic dystrophy 2024-01-21 criteria provided, single submitter clinical testing

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