ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1525-1G>A

dbSNP: rs2034013225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251125 SCV001426495 likely pathogenic Saldino-Mainzer syndrome criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001251125 SCV004804897 pathogenic Saldino-Mainzer syndrome 2024-03-17 criteria provided, single submitter research

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