ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.440-18del

dbSNP: rs199675485
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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 RCV001516270 SCV001724531 benign Jeune thoracic dystrophy 2024-01-22 criteria provided, single submitter clinical testing

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