ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.416dup (p.Gly140fs)

dbSNP: rs201192645
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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 RCV000308962 SCV000471253 likely benign Occult macular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000893307 SCV001037229 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888888 SCV004705994 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Clinical Genetics, Academic Medical Center RCV001729566 SCV001979212 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729566 SCV001979610 benign not specified no assertion criteria provided clinical testing

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