ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) (rs387907192)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV000024359 SCV001426496 pathogenic Saldino-Mainzer syndrome criteria provided, single submitter clinical testing
OMIM RCV000024359 SCV000045652 pathogenic Saldino-Mainzer syndrome 2012-05-04 no assertion criteria provided literature only
OMIM RCV000515561 SCV000611639 pathogenic Retinitis pigmentosa 80 2012-05-04 no assertion criteria provided literature only

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