ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.276dup (p.Arg93fs)

dbSNP: rs1582780842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787660 SCV000926649 likely pathogenic Macular dystrophy 2018-04-01 no assertion criteria provided research
Leiden Open Variation Database RCV001530218 SCV001744940 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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