ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.609+2T>C

gnomAD frequency: 0.00030  dbSNP: rs199958805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887874 SCV001031462 likely benign not provided 2022-12-23 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000887874 SCV002011488 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818075 SCV005072222 uncertain significance Retinal dystrophy 2018-01-01 no assertion criteria provided clinical testing

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