ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.677+3A>G

dbSNP: rs1553515435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626730 SCV000747433 likely pathogenic Severe photosensitivity; Macular dystrophy; Adult-onset night blindness 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199233 SCV001370270 likely pathogenic Retinitis pigmentosa 26 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. This variant was detected in homozygous state.

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