ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)

gnomAD frequency: 0.00239  dbSNP: rs113106943
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000416254 SCV000202089 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408525 SCV000281904 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000381856 SCV000359300 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000285181 SCV000359301 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000323858 SCV000359302 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000376503 SCV000359303 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000416254 SCV000490379 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing Identified as a single heterozygous variant in an individual with retinitis pigmentosa who had a different genetic etiology for the phenotype (Eisenberger et al., 2013); This variant is associated with the following publications: (PMID: 28044389, 29925512, 32581362, 24265693, 25346251, 26720470, 28224992, 29555955, 29854428, 28118664, 28041643)
CeGaT Center for Human Genetics Tuebingen RCV000416254 SCV000493538 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Invitae RCV000416254 SCV001106747 likely benign not provided 2021-12-16 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073617 SCV001239168 uncertain significance Retinal dystrophy 2019-07-19 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504993 SCV000598985 likely pathogenic Cone dystrophy 2015-01-01 no assertion criteria provided research

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