ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.445-15T>C

gnomAD frequency: 0.00008  dbSNP: rs745766333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002204272 SCV002493016 likely benign not provided 2025-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481024 SCV002795746 likely benign Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2021-12-24 criteria provided, single submitter clinical testing

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