ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)

dbSNP: rs752147871
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408493 SCV000281944 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197194 SCV001367830 likely pathogenic Age related macular degeneration 2 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP2,PP3,PP5.
Institute of Medical Molecular Genetics, University of Zurich RCV000408493 SCV001548121 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing

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