ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1356+5dup (rs281865386)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173674 SCV000224813 benign not specified 2014-05-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173674 SCV000303748 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306948 SCV000359499 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363912 SCV000359500 benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271612 SCV000359501 benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310367 SCV000359502 benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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