ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs)

gnomAD frequency: 0.00057  dbSNP: rs138816053
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000277090 SCV000267481 uncertain significance Occult macular dystrophy 2016-03-18 criteria provided, single submitter reference population
Illumina Laboratory Services, Illumina RCV000277090 SCV000471258 likely benign Occult macular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000895968 SCV001040037 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888647 SCV004706002 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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