ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.824_828+3delinsCATTTGGGCTCCTCATTTGG

dbSNP: rs2152005182
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001587462 SCV001815942 pathogenic Vitelliform macular dystrophy 3 2021-06-21 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530257 SCV001745006 likely 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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