ClinVar Miner

Submissions for variant NM_000965.5(RARB):c.1151-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Toulouse RCV002291335 SCV002583603 pathogenic Congenital ocular coloboma 2022-10-15 criteria provided, single submitter clinical testing P (PSVS1, PS2, PM2)

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