ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4773+48C>T

gnomAD frequency: 0.62724  dbSNP: rs472908
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244871 SCV000303762 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000244871 SCV000703475 benign not specified 2016-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000085672 SCV001159003 benign not provided 2022-09-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549171 SCV001769273 benign Severe early-childhood-onset retinal dystrophy 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549172 SCV001769274 benign Retinitis pigmentosa 19 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549173 SCV001769275 benign Cone-rod dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549174 SCV001769276 benign Age related macular degeneration 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000085672 SCV001943976 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23953153, 27884173, 29555955)
Retina International RCV000085672 SCV000117812 not provided not provided no assertion provided not provided

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