ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.20T>A (p.Leu7Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005005708 SCV005633339 likely pathogenic Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2024-01-16 criteria provided, single submitter clinical testing

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