ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) (rs3112831)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000173675 SCV000166766 benign not specified 2012-10-10 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 RCV000173675 SCV000224814 benign not specified 2014-05-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173675 SCV000303746 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303578 SCV000359519 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360724 SCV000359520 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000408013 SCV000359521 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297592 SCV000359522 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085383 SCV000493312 likely benign not provided 2016-08-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000173675 SCV000602331 benign not specified 2016-10-26 criteria provided, single submitter clinical testing
Retina International RCV000085383 SCV000117520 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000085383 SCV000172527 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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