ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2068-2A>G

dbSNP: rs1489989834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267908 SCV001446412 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499458 SCV002809906 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-05-16 criteria provided, single submitter clinical testing

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