ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4914+2dup

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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 RCV005024410 SCV005655987 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-04-04 criteria provided, single submitter clinical testing

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