ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.283C>T (p.Gln95Ter)

dbSNP: rs1563131180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762498 SCV000892823 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817983 SCV005072760 likely pathogenic Retinal dystrophy 2021-01-01 no assertion criteria provided clinical testing

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