ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3070G>T (p.Glu1024Ter)

dbSNP: rs777889289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786892 SCV000925791 pathogenic Retinitis pigmentosa 80 2018-11-05 no assertion criteria provided clinical testing

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