ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.*483_*484dup

dbSNP: rs55851577
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272880 SCV000463150 uncertain significance Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387213 SCV000463151 uncertain significance Patterned macular dystrophy 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279063 SCV000463152 uncertain significance Vitelliform macular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000276607 SCV000463153 uncertain significance Pigmentary retinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333939 SCV000463154 uncertain significance Choroidal Dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301247 SCV000463155 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279063 SCV000463162 uncertain significance Vitelliform macular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272880 SCV000463163 uncertain significance Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301247 SCV000463164 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387213 SCV000463165 uncertain significance Patterned macular dystrophy 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000276607 SCV000463166 uncertain significance Pigmentary retinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333939 SCV000463167 uncertain significance Choroidal Dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001692031 SCV001907633 benign not provided 2021-05-14 criteria provided, single submitter clinical testing

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