ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter)

gnomAD frequency: 0.00005  dbSNP: rs371886218
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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 RCV001073663 SCV001239215 pathogenic Retinal dystrophy 2019-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489719 SCV002808836 likely pathogenic Occult macular dystrophy; Retinitis pigmentosa 88 2021-09-24 criteria provided, single submitter clinical testing

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