ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) (rs147884766)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726042 SCV000341432 uncertain significance not provided 2016-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000123439 SCV000166774 benign not specified 2012-04-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000406941 SCV000359375 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310721 SCV000359376 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365294 SCV000359377 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266131 SCV000359378 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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