ClinVar Miner

Submissions for variant NM_000326.5(RLBP1):c.346+3_346+8del (rs56307321)

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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 RCV000306563 SCV000336146 benign not specified 2015-10-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267528 SCV000394115 likely benign Newfoundland rod-cone dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320481 SCV000394116 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377460 SCV000394117 likely benign Pigmentary retinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000958695 SCV001105566 benign not provided 2020-12-03 criteria provided, single submitter clinical testing

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