ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.6063del (p.Asp2021fs)

gnomAD frequency: 0.00003  dbSNP: rs572305644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490383 SCV000267479 uncertain significance Occult macular dystrophy 2016-03-18 criteria provided, single submitter reference population
Dept Of Ophthalmology, Nagoya University RCV003888646 SCV004705815 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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