ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly) (rs762213896)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000321298 SCV000359379 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361939 SCV000359380 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267412 SCV000359381 uncertain significance Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317911 SCV000359382 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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