ClinVar Miner

Submissions for variant NM_006744.4(RBP4):c.355+123T>G

gnomAD frequency: 0.39641  dbSNP: rs36014035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197955 SCV001368740 benign Progressive retinal dystrophy due to retinol transport defect 2018-12-20 criteria provided, single submitter clinical testing This variant was classified as: Benign. This variant was detected in homozygous state.
GeneDx RCV001615140 SCV001834201 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615140 SCV005323971 benign not provided criteria provided, single submitter not provided

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