ClinVar Miner

Submissions for variant NM_014055.4(IFT81):c.1717-2A>G

dbSNP: rs1868517084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328713 SCV001519889 likely pathogenic Short-rib thoracic dysplasia 19 with or without polydactyly 2020-01-27 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001328713 SCV004807096 pathogenic Short-rib thoracic dysplasia 19 with or without polydactyly 2024-03-26 criteria provided, single submitter clinical testing

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