ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.59_62CATC[1] (p.Ile22fs) (rs794729650)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596926 SCV000705360 likely pathogenic not provided 2017-01-09 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185560 SCV000238448 likely pathogenic Leber congenital amaurosis 13 2015-02-17 no assertion criteria provided research This variant (c.63_66del; p.Ile22Glyfs*19) has been previously published in a cohort with LCA in one individual (PMID: 17964524) and results in a premature stop 19 amino acids later. The resulting product being severely truncated and less than 1/3 of the expected length. This variant is not seen in the ExAC database nor in the ClinVar database.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185560 SCV000536762 likely pathogenic Leber congenital amaurosis 13 2015-02-17 no assertion criteria provided research

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