ClinVar Miner

Submissions for variant NM_004698.4(PRPF3):c.508-13C>G

gnomAD frequency: 0.00001  dbSNP: rs373033761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199345 SCV001370431 uncertain significance Retinitis pigmentosa 18 2019-06-21 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069290 SCV002336843 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing

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