ClinVar Miner

Submissions for variant NM_014989.7(RIMS1):c.4618+20dup

dbSNP: rs113359739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386150 SCV000464685 uncertain significance Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516407 SCV001724680 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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