ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1356+5_1356+6insC (rs1553193877)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173676 SCV000224815 benign not specified 2015-05-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260678 SCV000359507 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318246 SCV000359508 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375238 SCV000359509 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292599 SCV000359510 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000085391 SCV001038386 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Retina International RCV000085391 SCV000117528 not provided not provided no assertion provided not provided

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