ClinVar Miner

Submissions for variant NM_006915.3(RP2):c.949G>A (p.Glu317Lys)

gnomAD frequency: 0.00002  dbSNP: rs782721235
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000896113 SCV004164957 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing RP2: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000896113 SCV001040190 benign not provided 2025-09-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818076 SCV005071245 uncertain significance Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000896113 SCV001969418 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000896113 SCV001956267 likely benign not provided no assertion criteria provided clinical testing

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