ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.623dup (p.Val209fs)

dbSNP: rs62641253
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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 RCV000084995 SCV000117131 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084995 SCV001744982 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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