ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.2374-14dup

dbSNP: rs370477050
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000365045 SCV000448220 uncertain significance Macular dystrophy, retinal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270462 SCV000448221 uncertain significance Stargardt Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325557 SCV000448222 uncertain significance Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389475 SCV000448223 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000948275 SCV001094475 benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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