ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) (rs138831474)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488110 SCV000574766 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350024 SCV000359311 uncertain significance Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406989 SCV000359312 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310399 SCV000359313 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362798 SCV000359314 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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