ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.829-48C>T

gnomAD frequency: 0.22114  dbSNP: rs41273820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253089 SCV000303595 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001541594 SCV001759613 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000253089 SCV001745011 likely benign not specified 2021-05-27 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Julia Lopez.

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