ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.*2T>C

gnomAD frequency: 0.47361  dbSNP: rs4803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427224 SCV000516352 benign not specified 2016-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Dept Of Ophthalmology, Nagoya University RCV003889883 SCV004705218 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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