ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4607T>C (p.Leu1536Pro)

dbSNP: rs587777080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003488379 SCV004235781 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing
OMIM RCV000083271 SCV000115351 pathogenic Short-rib thoracic dysplasia 10 without polydactyly 2013-11-07 no assertion criteria provided literature only

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