ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) (rs61749455)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000085531 SCV000340465 uncertain significance not provided 2016-03-17 criteria provided, single submitter clinical testing
Invitae RCV000085531 SCV001117607 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073380 SCV001238921 pathogenic Retinal dystrophy 2019-01-05 criteria provided, single submitter clinical testing
Retina International RCV000085531 SCV000117668 not provided not provided no assertion provided not provided
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505091 SCV000598957 likely pathogenic Macular dystrophy 2015-01-01 no assertion criteria provided research

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