ClinVar Miner

Submissions for variant NM_004744.5(LRAT):c.*313del

dbSNP: rs146990234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380435 SCV000447917 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285976 SCV000447918 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340983 SCV000447919 uncertain significance Retinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004695780 SCV005190318 uncertain significance not provided criteria provided, single submitter not provided

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