ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.*1056_*1057insCACACATACA

dbSNP: rs1554075269
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000385954 SCV000448910 uncertain significance Corneal Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275244 SCV000448911 uncertain significance Bietti crystalline corneoretinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing

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