ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3878+9C>T

dbSNP: rs1571564812
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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 RCV001199229 SCV001370266 uncertain significance Pigmented paravenous retinochoroidal atrophy 2019-03-17 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: PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001466667 SCV001670673 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-07-02 criteria provided, single submitter clinical testing

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