ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3748+17dup

dbSNP: rs578107768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261304 SCV000385452 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297795 SCV000385453 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001517184 SCV001725630 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-22 criteria provided, single submitter clinical testing

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