ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.582-2A>T

dbSNP: rs2152005417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815557 SCV005072009 pathogenic Retinal dystrophy 2009-01-01 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530352 SCV001745150 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. Comment: Variant observed de novo.

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