ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.1451del (p.Ser484fs)

gnomAD frequency: 0.00004  dbSNP: rs749460193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075576 SCV001241203 likely pathogenic Retinal dystrophy 2019-01-09 criteria provided, single submitter clinical testing
DBGen Ocular Genomics RCV001593256 SCV001815966 pathogenic Retinitis pigmentosa 88 2021-06-22 criteria provided, single submitter clinical testing

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