ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.1076+9C>G

gnomAD frequency: 0.00283  dbSNP: rs139408398
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591801 SCV000701687 benign not specified 2016-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861832 SCV001002237 benign Jeune thoracic dystrophy 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279371 SCV002566848 likely benign Connective tissue disorder 2020-03-01 criteria provided, single submitter clinical testing

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