ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) (rs61754033)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000271906 SCV000359424 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322409 SCV000359425 uncertain significance Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377007 SCV000359426 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287276 SCV000359427 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408581 SCV000281854 uncertain significance Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085518 SCV000117655 not provided not provided no assertion provided not provided

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