ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) (rs6666652)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178683 SCV000166761 benign not specified 2011-07-13 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178683 SCV000230810 benign not specified 2014-08-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000178683 SCV000303784 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340209 SCV000359179 benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376116 SCV000359180 benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281600 SCV000359181 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336644 SCV000359182 benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000178683 SCV000602333 benign not specified 2016-06-15 criteria provided, single submitter clinical testing
Retina International RCV000085855 SCV000117998 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000085855 SCV000172540 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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