ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.2464C>T (p.Arg822Ter)

gnomAD frequency: 0.00002  dbSNP: rs755599243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591847 SCV001815968 pathogenic Retinitis pigmentosa 88 2021-06-22 criteria provided, single submitter clinical testing

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