ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.502AAC[1] (p.Asn169del)

dbSNP: rs61755790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Retina International RCV000084978 SCV000117114 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084978 SCV001744956 likely 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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