ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.582-85G>A

gnomAD frequency: 0.25301  dbSNP: rs34722725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001673123 SCV001887968 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530348 SCV001745146 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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