ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.2139T>C (p.Asp713=)

gnomAD frequency: 0.00485  dbSNP: rs16831157
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860737 SCV001000879 benign Jeune thoracic dystrophy 2024-01-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117623 SCV003800082 benign Asphyxiating thoracic dystrophy 2 2022-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918318 SCV004729706 benign IFT80-related disorder 2019-09-12 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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