ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.1525-6C>G

dbSNP: rs201231401
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001727724 SCV000530857 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV000877807 SCV001020596 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-12-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506060 SCV002804780 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-12-16 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000433325 SCV001917329 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727724 SCV001969444 likely benign not provided no assertion criteria provided clinical testing

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