ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.582-67T>A

gnomAD frequency: 0.56178  dbSNP: rs3818086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001673124 SCV001887467 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530349 SCV001745147 likely benign not specified 2021-03-21 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Julia Lopez.

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