ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.777+20A>G

gnomAD frequency: 0.00217  dbSNP: rs192387448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000614 SCV001157609 benign Asphyxiating thoracic dystrophy 2 2023-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523465 SCV001733171 benign Jeune thoracic dystrophy 2024-01-26 criteria provided, single submitter clinical testing

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