ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.371del (p.Gly124fs)

dbSNP: rs61755778
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000084964 SCV002497408 pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815029 SCV005070150 pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
Retina International RCV000084964 SCV000117100 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084964 SCV001745034 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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