ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2677-8C>T (rs73071678)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000360917 SCV000352842 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261268 SCV000352843 likely benign Pigmented paravenous chorioretinal atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297774 SCV000352844 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000648819 SCV000770640 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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