ClinVar Miner

Submissions for variant NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys) (rs1569077441)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, INSERM RCV000757976 SCV000839871 pathogenic Bardet-Biedl syndrome 2018-09-15 criteria provided, single submitter clinical testing Absent from gnomAD and 1000genomes, predicted to alter protein function (GDP/GTP exchange)

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