ClinVar Miner

Submissions for variant NM_016004.5(IFT52):c.424C>T (p.Arg142Ter)

gnomAD frequency: 0.00001  dbSNP: rs748090019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000240043 SCV002053804 pathogenic Short-rib thoracic dysplasia 16 with or without polydactyly criteria provided, single submitter clinical testing
OMIM RCV000240043 SCV000298231 pathogenic Short-rib thoracic dysplasia 16 with or without polydactyly 2020-11-02 no assertion criteria provided literature only

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