ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) (rs1553781360)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000592804 SCV000701713 uncertain significance not provided 2016-10-13 criteria provided, single submitter clinical testing
Invitae RCV000592804 SCV001222752 pathogenic not provided 2020-09-12 criteria provided, single submitter clinical testing This variant, c.768_770del, results in the deletion of 1 amino acid(s) of the RHO protein (p.Ile256del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 1985460, 28076437, 20832389). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074532 SCV001240121 pathogenic Retinal dystrophy 2018-02-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000592804 SCV001246340 pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing

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