ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2968G>C (p.Ala990Pro)

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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 RCV005020912 SCV005651384 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-03-07 criteria provided, single submitter clinical testing

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